Allele Registry

Canonical Allele Identifier: PA2827013951

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000203097

RCV000567626

RCV001304571

RCV001705067

RCV003166723

RCV004537590

ClinVar Variation:

207673

1007392

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Phe704Leu	CA041007 NM_001318831.2:c.2112C>G CA394279475 NM_001318831.2:c.2110T>C CA394279487 NM_001318831.2:c.2112C>A