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_011533057.1:p.Lys486Asn	CA370221676 XM_011534755.3:c.1458A>C CA370221677 XM_011534755.3:c.1458A>T