Allele Registry

Canonical Allele Identifier: PA2828129281

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV001528921

RCV001776252

RCV002070351

ClinVar Variation:

1174812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350909.1:p.Arg171Ser	CA4610271 NM_001363980.2:c.513G>T CA4610272 NM_001363980.2:c.513G>C