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: PA2827395196

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177663

ClinVar RCV Id: RCV000154252

ClinVar Variation Id: 177765

ClinVar RCV Id: RCV000154382

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Leu480_Glu482del	CA180594 NM_001346941.2:c.1434_1442del CA180726 NM_001346941.2:c.1438_1446del