Allele Registry

Canonical Allele Identifier: PA2827000473

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055561

RCV001053191

ClinVar Variation:

65337

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu182Pro	CA022749 NM_001318827.2:c.545T>C