ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043575
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340912
ClinVar RCV Id:
RCV000299341
RCV000337956
RCV000559614
RCV001024873
RCV001789772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349806.1:p.Ala221Thr
CA10145992
NM_001362877.2:c.661G>A