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: PA2827395211

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45238

ClinVar RCV Id: RCV000038394

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Glu482_Ala488delinsAsp	CA135809 NM_001346941.2:c.1446_1463del