Allele Registry

Canonical Allele Identifier: PA2828129616

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000146303

ClinVar Variation:

158848

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350909.1:p.Ala668Glu	CA172517 NM_001363980.2:c.2003C>A