Canonical Allele Identifier: PA107809
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49344
ClinVar RCV Id: RCV000042604 RCV000553605
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp1690Tyr
CA021630
NM_000548.5:c.5068G>T