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
NP_078872.3:p.Lys486Asn	CA370221676 NM_024596.5:c.1458A>C CA370221677 NM_024596.5:c.1458A>T