Canonical Allele Identifier: PA2825956538
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466045
ClinVar RCV Id: RCV000536952 RCV001013415 RCV003159132 RCV003999197
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Thr573Ile
CA029981
NM_001162427.2:c.1718C>T