ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006089
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1744511
ClinVar RCV Id:
RCV002342884
RCV003096547
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gln117Arg
CA276771986
NM_001318829.2:c.350A>G