Allele Registry

Canonical Allele Identifier: PA2827006227

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000528200

RCV002255451

RCV003237914

RCV003999333

ClinVar Variation:

468173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala175Thr	CA056104 NM_001318829.2:c.523G>A