ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043608
Gene: SMARCB1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001349806.1:p.Arg392Gln
NM_001362877.2:c.1175G>A