ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580275516
Gene: SMARCB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002603286
RCV003294548
ClinVar Variation:
2184420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Arg53Gln
CA10145858
NM_003073.5:c.158G>A