Allele Registry

Canonical Allele Identifier: PA2827002280

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043386

RCV002273946

ClinVar Variation:

50119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu696Pro	CA016906 NM_001318827.2:c.2087T>C