Allele Registry

Canonical Allele Identifier: PA2827020640

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189938

RCV000575063

RCV001088052

RCV001225081

RCV003996871

RCV004032529

ClinVar Variation:

207690

952882

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Phe1610Leu	CA053452 NM_001318832.2:c.4830C>A CA394310978 NM_001318832.2:c.4828T>C CA394310991 NM_001318832.2:c.4830C>G