Canonical Allele Identifier: PA2828419246
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 946370
ClinVar RCV Id: RCV001217227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Thr1016Ile
CA044645
NM_001370405.1:c.3047C>T