Allele Registry

Canonical Allele Identifier: PA2827000947

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042395

RCV000413741

RCV001065226

ClinVar Variation:

49140

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu325Pro	CA013704 NM_001318827.2:c.974T>C