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: PA2827395340

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376342

ClinVar RCV Id: RCV000440892 RCV002521504

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Cys530Ser	CA16602785 NM_001346941.2:c.1588T>A CA367578899 NM_001346941.2:c.1589G>C