ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108524
Gene: SMARCB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Arg377His
CA129021
NM_003073.5:c.1130G>A