Allele Registry

Canonical Allele Identifier: PA2827141448

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000020903

RCV000146337

RCV001594818

ClinVar Variation:

21705

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308974.2:p.Asp280His	CA172550 NM_001322045.2:c.838G>C