ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825287408
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265393
ClinVar RCV Id:
RCV000255465
RCV001782753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Arg357Cys
CA10588715
NM_001007468.3:c.1069C>T