ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580232216
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784737
ClinVar RCV Id:
RCV002419766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349806.1:p.Ala377Thr
CA410913578
NM_001362877.2:c.1129G>A