ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825287390
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1782663
ClinVar RCV Id:
RCV002410696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Thr348Ala
CA410913524
NM_001007468.3:c.1042A>G