Allele Registry

Canonical Allele Identifier: PA2827013906

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055281

RCV001853092

ClinVar Variation:

65074

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ala689Pro	CA017834 NM_001318831.2:c.2065G>C