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: PA2830472995

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 943452

ClinVar RCV Id: RCV001213643 RCV003492230

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_958440.1:p.Thr290Ile	CA158912259 NM_201283.2:c.869C>T