ClinGen Allele Registry
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Canonical Allele Identifier:
PA645459091
Gene: SMARCB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000412754
RCV000850606
RCV001533136
RCV004022158
ClinVar Variation:
372511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Arg374Gln
CA16043146
NM_003073.5:c.1121G>A