Allele Registry

Canonical Allele Identifier: PA2827140530

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000082198

RCV000603959

RCV001664382

RCV003668433

ClinVar Variation:

96126

2799283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308971.2:p.Asp392Gly	CA149260 NM_001322042.2:c.1175A>G CA2739278721 NM_001322042.2:c.1175_1176delinsGG