Allele Registry

Canonical Allele Identifier: PA2828129681

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000020901

RCV000146321

RCV001711083

ClinVar Variation:

21703

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350909.1:p.Pro735Ser	CA172535 NM_001363980.2:c.2203C>T