Canonical Allele Identifier: PA2827002142
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_001305756.1:p.Cys659Tyr
CA016643
NM_001318827.2:c.1976G>A