ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826974116
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464334
ClinVar RCV Id:
RCV000548946
RCV004023978
RCV003459234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304875.1:p.Thr241Met
CA10146033
NM_001317946.2:c.722C>T