Allele Registry

Canonical Allele Identifier: PA645469283

Gene: EGLN1 HGNC NCBI

ClinVar Allele:

227498

ClinVar RCV:

RCV000473621

RCV003907786

RCV004020582

ClinVar Variation:

225682

HGVS (amino-acid)	Matching Registered Transcripts
NP_071334.1:p.Asp4Glu	CA1453218 NM_022051.3:c.12C>G CA345239613 NM_022051.3:c.12C>A