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: MCPH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000509072.1:p.Thr480Ser	CA4610555 ENST00000692938.1:c.1439C>G CA370221638 ENST00000692938.1:c.1438A>T