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: PA2827395266

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45254

ClinVar RCV Id: RCV000038410

ClinVar Variation Id: 45255

ClinVar RCV Id: RCV000038411

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Val502Leu	CA135847 NM_001346941.2:c.1504G>C CA135850 NM_001346941.2:c.1504G>T