ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139740877
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30201
ClinVar RCV Id:
RCV000023121
RCV000377856
RCV002444438
RCV002504820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349806.1:p.Lys382del
CA10575547
NM_001362877.2:c.1145_1147del