Allele Registry

Canonical Allele Identifier: PA916023245

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644082

RCV001023148

RCV004003989

ClinVar Variation:

535868

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Asp173Asn	CA394309028 NM_001318832.2:c.517G>A