Canonical Allele Identifier: PA2828415961
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1915555
ClinVar RCV Id: RCV002601573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala42Thr
CA394301705
NM_001370405.1:c.124G>A