Canonical Allele Identifier: PA2828418200
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50106
ClinVar RCV Id: RCV000043373 RCV000490930 RCV001240824
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Cys696Tyr
CA016643
NM_001370405.1:c.2087G>A