Allele Registry

Canonical Allele Identifier: PA2827004400

Gene: TSC2 HGNC NCBI

ClinVar Allele:

466281

ClinVar RCV:

RCV000533905

RCV001022339

RCV003999315

ClinVar Variation:

468085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1348Gly	CA050943 NM_001318827.2:c.4042C>G