SLC29A3 (NM_018344.6) sequence variants
(ENT3, HJCD, PHID, HCLAP)

General web sites
LRG	LRG_1318
DNA	NC_000010.11 GRCh38.p13	ENSG00000198246 GRCh38.p13
	NC_000010.10 GRCh37.p13	ENSG00000198246 GRCh37.p13
	NG_017066.2
mRNA	NM_018344.6	ENST00000373189.6
CCDS	CCDS7310.1
Protein	NP_060814.4	ENSP00000362285.5
NCBI Gene	55315
OMIM Gene	612373
OMIM Disease	602782
Nomenclature	HGNC

PubMed of the initial paper: Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. Melki I & al
Variants review: H syndrome: the first 79 patients Molho-Pessach V & al
Other links: MAP VIEW ORPHANET: Orphan disease database