Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: CPLANE1 HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000498265.2:p.Arg2493Ter	ENST00000651892.2:c.[7476del;7478G>T;7480... ENST00000651892.2:c.[7476del;7478G>T;7480... ENST00000651892.2:c.7477C>T