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: PA2499270447

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1063123

ClinVar RCV Id: RCV001372930

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005219.2:p.Arg832His	CA4266106 NM_005228.5:c.2495G>A