Canonical Allele Identifier: PA2828421902
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 381472
ClinVar RCV Id: RCV000423075 RCV000531557 RCV000565678 RCV004000340
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg1748His
CA055272
NM_001370405.1:c.5243G>A