Canonical Allele Identifier: PA2827005183
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207690
ClinVar RCV Id: RCV000189938 RCV000575063 RCV001088052 RCV003996871
ClinVar Variation Id: 952882
ClinVar RCV Id: RCV001225081 RCV004032529
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Phe1563Leu
CA053452
NM_001318827.2:c.4689C>A
CA394310978
NM_001318827.2:c.4687T>C
CA394310991
NM_001318827.2:c.4689C>G