Allele Registry

Canonical Allele Identifier: PA916077636

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000146304

ClinVar Variation:

158849

HGVS (amino-acid)	Matching Registered Transcripts
NP_078872.3:p.Ala761Gly	CA172519 NM_024596.5:c.2282C>G