Allele Registry

Canonical Allele Identifier: PA2828129096

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000020900

RCV000146305

RCV001539339

RCV003690482

ClinVar Variation:

21702

2846801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350908.1:p.Ala761Val	CA172521 NM_001363979.1:c.2282C>T CA2739279880 NM_001363979.1:c.2282_2283delinsTA