Canonical Allele Identifier: PA658680867
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467951
ClinVar RCV Id: RCV000552388 RCV001770442 RCV002456153 RCV003999272
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro854Leu
CA394278313
NM_000548.5:c.2561C>T