Canonical Allele Identifier: PA2828090695
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65196
ClinVar RCV Id: RCV000055413 RCV000539242 RCV001355778 RCV000765261
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Leu345Phe
CA013622
NM_001363528.2:c.1033C>T