Allele Registry

Canonical Allele Identifier: PA2828702365

Gene: EGLN1 HGNC NCBI

ClinVar Allele:

19396

ClinVar RCV:

RCV000004605

ClinVar Variation:

4357

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364189.1:p.His374Arg	CA116776 NM_001377260.1:c.1121A>G