Canonical Allele Identifier: PA2827009933
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50096
ClinVar RCV Id: RCV000043362 RCV002326765 RCV002514176
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Leu1469Arg
CA020979
NM_001318829.2:c.4406T>G