Allele Registry

Canonical Allele Identifier: PA2827000445

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000167112

RCV000233190

RCV001721086

RCV003995559

ClinVar Variation:

187388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala173Val	CA022710 NM_001318827.2:c.518C>T