Canonical Allele Identifier: PA2827011689
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187173
ClinVar RCV Id: RCV000166873 RCV000553448 RCV001762388 RCV003995539
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ser115Leu
CA023151
NM_001318831.2:c.344C>T