Allele Registry

Canonical Allele Identifier: PA2825286966

Gene: SMARCB1 HGNC NCBI

ClinVar RCV:

RCV000023122

RCV001321700

ClinVar Variation:

30202

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007469.1:p.Pro48Leu	CA129018 NM_001007468.3:c.143C>T