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: PA2827391632

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1479650

ClinVar RCV Id: RCV001976880

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333828.1:p.Asp725Glu	CA367578646 NM_001346899.1:c.2175C>G CA367578648 NM_001346899.1:c.2175C>A