Allele Registry

Canonical Allele Identifier: PA263206

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043463

RCV000807349

ClinVar Variation:

50194

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu466Pro	CA014733 NM_000548.5:c.1397T>C