ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145400
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
88893
ClinVar RCV Id:
RCV000074462
RCV000262341
RCV001533133
RCV004556052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Arg37His
CA145398
NM_001007468.3:c.110G>A