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: PA2580556390

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1982175

ClinVar RCV Id: RCV002766627

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_958441.1:p.Thr290Ser	CA367577852 NM_201284.2:c.868A>T CA367577854 NM_201284.2:c.869C>G