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: PA2827395403

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45278

ClinVar RCV Id: RCV000038434

ClinVar Variation Id: 45279

ClinVar RCV Id: RCV000038435 RCV003996408

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Val567Leu	CA135917 NM_001346941.2:c.1699G>C CA135920 NM_001346941.2:c.1699G>T