ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061006
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
508501
ClinVar RCV Id:
RCV000870405
RCV000606735
RCV001017513
RCV001531749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Leu854Gln
CA035074
NM_001362177.1:c.2561T>A