Allele Registry

Canonical Allele Identifier: PA645433284

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458982

RCV002451088

RCV004000702

RCV004529590

ClinVar Variation:

406032

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1129Cys	CA16615117 NM_000548.5:c.3385C>T