ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826974323
Gene: SMARCB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000023124
RCV001017402
RCV001238882
ClinVar Variation:
30203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304875.1:p.Arg386His
CA129021
NM_001317946.2:c.1157G>A