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
ENSP00000510001.1:p.Gln393His	CA370221119 ENST00000685179.1:c.1179G>C CA370221120 ENST00000685179.1:c.1179G>T