Canonical Allele Identifier: PA264683
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65291
ClinVar RCV Id: RCV000055513 RCV001814036
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1743Leu
CA022229
NM_000548.5:c.5228G>T