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: PA2827395450

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1404070

ClinVar RCV Id: RCV001898932 RCV003332358

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Gly596Ser	CA367580297 NM_001346941.2:c.1786G>A