ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826974302
Gene: SMARCB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304875.1:p.Lys373del
CA10575547
NM_001317946.2:c.1118_1120del