ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013996
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50114
ClinVar RCV Id:
RCV000043381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu716Arg
CA018075
NM_001318831.2:c.2147T>G