Canonical Allele Identifier: PA2828418961
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135375
ClinVar RCV Id: RCV000122214 RCV000471145 RCV001704039 RCV002256078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu921Val
CA018107
NM_001370405.1:c.2761C>G