Allele Registry

Canonical Allele Identifier: PA645434400

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000443899

RCV001022342

RCV001082242

ClinVar Variation:

238046

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1451His	CA050956 NM_000548.5:c.4352G>A