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
XP_011533059.1:p.Val397Leu	CA370221125 XM_011534757.3:c.1189G>C CA370221126 XM_011534757.3:c.1189G>T