Canonical Allele Identifier: PA2827007331
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49721
ClinVar RCV Id: RCV000042985 RCV002514169
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala565Asp
CA016019
NM_001318829.2:c.1694C>A