ClinGen Allele Registry
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Canonical Allele Identifier:
PA645459091
Gene: SMARCB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003064.2:p.Arg374Gln
NM_003073.5:c.1121G>A