Allele Registry

Canonical Allele Identifier: PA2828129475

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000328196

RCV000504368

RCV000930721

RCV003950289

ClinVar Variation:

363525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350909.1:p.Thr468Asn	CA4610542 NM_001363980.2:c.1403C>A