Allele Registry

Canonical Allele Identifier: PA916023847

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000130092

RCV000530366

RCV004528853

ClinVar Variation:

141526

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ala764Thr	CA017108 NM_001318832.2:c.2290G>A