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: PA2827389959

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1404199

ClinVar RCV Id: RCV001927668

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333827.1:p.Leu792Phe	CA367578864 NM_001346898.1:c.2374C>T