Allele Registry

Canonical Allele Identifier: PA2827140801

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000146303

ClinVar Variation:

158848

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308971.2:p.Ala761Glu	CA172517 NM_001322042.2:c.2282C>A