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: PA2827391814

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1427876

ClinVar RCV Id: RCV001946033

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333828.1:p.Gly818Cys	CA367580299 NM_001346899.1:c.2452G>T