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.Thr439Ser	CA370221679 ENST00000522905.1:c.1315A>T CA370221681 ENST00000522905.1:c.1316C>G