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
ENSP00000430768.1:p.Asp344Glu	CA370221093 ENST00000522905.1:c.1032C>A CA370221094 ENST00000522905.1:c.1032C>G