Canonical Allele Identifier: PA645413237
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365517
ClinVar RCV Id: RCV000267953 RCV000360120 RCV000546659 RCV002402089 RCV001810867
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr582Ile
CA10629362
NM_000368.5:c.1745C>T