ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825287393
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580796
ClinVar RCV Id:
RCV000997886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Thr348Ile
CA410913532
NM_001007468.3:c.1043C>T