Allele Registry

Canonical Allele Identifier: PA2827000308

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644082

RCV001023148

RCV004003989

ClinVar Variation:

535868

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Asp125Asn	CA394309028 NM_001318827.2:c.373G>A