Canonical Allele Identifier: PA2827000084
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467862
ClinVar RCV Id: RCV000543191 RCV002384164 RCV004527645
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu45Arg
CA394301803
NM_001318827.2:c.134T>G