Canonical Allele Identifier: PA2829982941
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49344
ClinVar RCV Id: RCV000042604 RCV000553605
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Asp1647Tyr
CA021630
NM_021055.3:c.4939G>T