Allele Registry

Canonical Allele Identifier: PA916077639

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000146303

ClinVar Variation:

158848

HGVS (amino-acid)	Matching Registered Transcripts
NP_078872.3:p.Ala761Glu	CA172517 NM_024596.5:c.2282C>A