Allele Registry

Canonical Allele Identifier: PA2499290559

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV001528921

RCV001776252

RCV002070351

ClinVar Variation:

1174812

HGVS (amino-acid)	Matching Registered Transcripts
NP_078872.3:p.Arg171Ser	CA4610271 NM_024596.5:c.513G>T CA4610272 NM_024596.5:c.513G>C