Allele Registry

Canonical Allele Identifier: PA2827141559

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000328196

RCV000504368

RCV000930721

RCV003950289

ClinVar Variation:

363525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308974.2:p.Thr434Asn	CA4610542 NM_001322045.2:c.1301C>A