Canonical Allele Identifier: PA2828417431
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49161
ClinVar RCV Id: RCV000042417 RCV001056606 RCV003162356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu493Val
CA014935
NM_001370405.1:c.1477C>G