ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3088629329
Gene: SMARCB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Pro48Arg
CA410932675
NM_003073.5:c.143C>G