Allele Registry

Canonical Allele Identifier: PA2827141127

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000082198

RCV000603959

RCV001664382

RCV003668433

ClinVar Variation:

96126

2799283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308972.2:p.Asp390Gly	CA149260 NM_001322043.2:c.1169A>G CA2739278721 NM_001322043.2:c.1169_1170delinsGG