Allele Registry

Canonical Allele Identifier: PA2828129363

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000020903

RCV000146337

RCV001594818

ClinVar Variation:

21705

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350909.1:p.Asp314His	CA172550 NM_001363980.2:c.940G>C