ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645459075
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410712
ClinVar RCV Id:
RCV000461202
RCV003168834
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Leu120Phe
CA10145894
NM_003073.5:c.358C>T