Allele Registry

Canonical Allele Identifier: PA2825435449

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043464

RCV000482403

ClinVar Variation:

50195

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Leu466Arg	CA014742 NM_001077183.3:c.1397T>G