Canonical Allele Identifier: PA2828418336
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50119
ClinVar RCV Id: RCV000043386 RCV002273946
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu733Pro
CA016906
NM_001370405.1:c.2198T>C