Canonical Allele Identifier: PA2829973271
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50194
ClinVar RCV Id: RCV000043463 RCV000807349
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Leu466Pro
CA014733
NM_021055.3:c.1397T>C