Allele Registry

Canonical Allele Identifier: PA2827013201

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000232288

RCV001014180

RCV003311720

RCV003998809

ClinVar Variation:

237979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser483Pro	CA10583302 NM_001318831.2:c.1447T>C