Canonical Allele Identifier: PA2828416907
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468198
ClinVar RCV Id: RCV000531279 RCV002384166 RCV002483449 RCV003999347 RCV002473056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val333Leu
CA394317317
NM_001370405.1:c.997G>C
CA394317320
NM_001370405.1:c.997G>T