Canonical Allele Identifier: PA2828421905
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_001357334.1:p.Leu1749_Ile1750insHisLeuLeuGlyGlyGlyLeu
CA2825002357
NM_001370405.1:c.5246_5247insTCATCTCCTCGGTGGAGGACT