Allele Registry

Canonical Allele Identifier: PA129020

Gene: SMARCB1 HGNC NCBI

ClinVar RCV:

RCV000023122

RCV001321700

ClinVar Variation:

30202

HGVS (amino-acid)	Matching Registered Transcripts
NP_003064.2:p.Pro48Leu	CA129018 NM_003073.5:c.143C>T