Allele Registry

Canonical Allele Identifier: PA2828702991

Gene: EGLN1 HGNC NCBI

ClinVar Allele:

19394

ClinVar RCV:

RCV000004603

ClinVar Variation:

4355

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364190.1:p.Pro317Arg	CA116774 NM_001377261.1:c.950C>G CA2586968434 NM_001377261.1:c.949_950delinsAG