Canonical Allele Identifier: PA2828419301
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207742
ClinVar RCV Id: RCV000531095 RCV000765271 RCV002321770
ClinVar Variation Id: 3232136
ClinVar RCV Id: RCV004520819
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Gly1033Arg
CA044834
NM_001370405.1:c.3097G>A
CA394285992
NM_001370405.1:c.3097G>C