ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825287406
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532968
ClinVar RCV Id:
RCV001302083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Arg357His
CA410913862
NM_001007468.3:c.1070G>A