Allele Registry

Canonical Allele Identifier: PA2827005183

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189938

RCV000575063

RCV001088052

RCV001225081

RCV003996871

RCV004032529

ClinVar Variation:

207690

952882

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