Canonical Allele Identifier: PA2828095251
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000279
ClinVar RCV Id: RCV001751562 RCV001296392 RCV003294205
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Met1649Thr
CA054058
NM_001363528.2:c.4946T>C