Canonical Allele Identifier: PA2827014595
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047
ClinVar RCV Id: RCV002304844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ser973Arg
CA394291960
NM_001318831.2:c.2917A>C
CA394291979
NM_001318831.2:c.2919C>A
CA394291987
NM_001318831.2:c.2919C>G