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_001166045.2:p.Thr487Ser	CA370221679 NM_001172574.2:c.1459A>T CA370221681 NM_001172574.2:c.1460C>G