Canonical Allele Identifier: PA2828415787
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069892
ClinVar RCV Id: RCV004009924
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu1752_Ile1753insHisLeuLeuGlyGlyGlyLeu
CA2825002357
NM_001370404.1:c.5255_5256insTCATCTCCTCGGTGGAGGACT