Canonical Allele Identifier: PA2828094277
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49829
ClinVar RCV Id: RCV000043095 RCV000190032 RCV001022345 RCV001088217
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser1386Leu
CA020322
NM_001363528.2:c.4157C>T