Canonical Allele Identifier: PA2827004406
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_001305756.1:p.Ser1349Leu
CA020322
NM_001318827.2:c.4046C>T