Canonical Allele Identifier: PA2825434139
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141455
ClinVar RCV Id: RCV000129975 RCV003626606
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Ile40Thr
CA014027
NM_001077183.3:c.119T>C