ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825286974
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410706
ClinVar RCV Id:
RCV000490024
RCV000785603
RCV002402285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Arg53Leu
CA16616285
NM_001007468.3:c.158G>T