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: PA2827387021

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1367575

ClinVar RCV Id: RCV001947359

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333826.1:p.Thr81Asn	CA367575622 NM_001346897.1:c.242C>A