Allele Registry

Canonical Allele Identifier: PA916026455

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000020901

RCV000146321

RCV001711083

ClinVar Variation:

21703

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308971.2:p.Pro875Leu	CA172535 NM_001322042.2:c.2624C>T