Canonical Allele Identifier: PA2827007833
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467936
ClinVar RCV Id: RCV000544312 RCV000571953 RCV003225085
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala723Val
CA038376
NM_001318829.2:c.2168C>T