Canonical Allele Identifier: PA2827007880
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406123
ClinVar RCV Id: RCV000456253 RCV002451090 RCV004000723
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Met739Ile
CA038757
NM_001318829.2:c.2217G>A
CA394276962
NM_001318829.2:c.2217G>C
CA394276964
NM_001318829.2:c.2217G>T