Allele Registry

Canonical Allele Identifier: PA916022969

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000538015

RCV001049757

RCV001779000

RCV002431636

RCV003999342

ClinVar Variation:

468187

846454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Met76Ile	CA394313332 NM_001318831.2:c.228G>A CA394313336 NM_001318831.2:c.228G>C CA394313340 NM_001318831.2:c.228G>T