ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194948
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
623977
ClinVar RCV Id:
RCV000762051
RCV002458370
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Thr381Arg
CA410914720
NM_003073.5:c.1142C>G