Allele Registry

Canonical Allele Identifier: PA2828069493

Gene: SMARCB1 HGNC NCBI

ClinVar RCV:

RCV000023122

RCV001321700

ClinVar Variation:

30202

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349806.1:p.Pro48Leu	CA129018 NM_001362877.2:c.143C>T