Allele Registry

Canonical Allele Identifier: PA916077599

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000146289

RCV000301716

RCV001539042

ClinVar Variation:

158834

HGVS (amino-acid)	Matching Registered Transcripts
NP_078872.3:p.Thr682Asn	CA172500 NM_024596.5:c.2045C>A