ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023843
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207727
ClinVar RCV Id:
RCV000189996
RCV000563830
RCV001087821
RCV001117540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg760Gln
CA037732
NM_001318832.2:c.2279G>A