Allele Registry

Canonical Allele Identifier: PA2827015824

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043361

RCV000820413

ClinVar Variation:

50095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Leu1334Pro	CA020960 NM_001318831.2:c.4001T>C