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: PA2830472988

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376209

ClinVar RCV Id: RCV000423404 RCV000423749 RCV000439402

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_958440.1:p.Ala289Val	CA16602664 NM_201283.2:c.866C>T