Canonical Allele Identifier: PA2828421949
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536087
ClinVar RCV Id: RCV000644386 RCV001024065 RCV001119439 RCV004533370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu1758Lys
CA055360
NM_001370405.1:c.5272G>A