Canonical Allele Identifier: PA2828414452
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49829
ClinVar RCV Id: RCV000043095 RCV000190032 RCV001022345 RCV001088217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1408Leu
CA020322
NM_001370404.1:c.4223C>T