Allele Registry

Canonical Allele Identifier: PA2830018912

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000020901

RCV000146321

RCV001711083

ClinVar Variation:

21703

HGVS (amino-acid)	Matching Registered Transcripts
NP_078872.3:p.Pro828Ser	CA172535 NM_024596.5:c.2482C>T