Canonical Allele Identifier: PA2828419760
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50148
ClinVar RCV Id: RCV000043416 RCV000201026 RCV000414012
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Gly1161Glu
CA019384
NM_001370405.1:c.3482G>A