Allele Registry

Canonical Allele Identifier: PA263208

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59357

ClinVar RCV:

RCV000043464

RCV000482403

ClinVar Variation:

50195

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu466Arg	CA014742 NM_000548.5:c.1397T>G