ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043213
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237721
ClinVar RCV Id:
RCV000361865
RCV001023070
RCV001084683
RCV003153524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg39His
CA037559
NM_001362177.1:c.116G>A