Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA109795

Gene: EGLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4356

ClinVar RCV Id: RCV000004604

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071334.1:p.Arg371His	CA116775 NM_022051.3:c.1112G>A