ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016184
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207758
ClinVar RCV Id:
RCV000190039
RCV001084596
RCV002336507
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Cys1436Tyr
CA053573
NM_001318831.2:c.4307G>A