Allele Registry

Canonical Allele Identifier: PA2827011400

Gene: TSC2 HGNC NCBI

ClinVar Allele:

324618

ClinVar RCV:

RCV000309089

RCV000644137

RCV002446569

ClinVar Variation:

318320

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Thr722Ile	CA10637328 NM_001318829.2:c.2165C>T