Allele Registry

Canonical Allele Identifier: PA916043608

Gene: SMARCB1 HGNC NCBI

ClinVar RCV:

RCV000412754

RCV000850606

RCV001533136

RCV004022158

ClinVar Variation:

372511

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349806.1:p.Arg392Gln	CA16043146 NM_001362877.2:c.1175G>A