Allele Registry

Canonical Allele Identifier: PA916023329

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465190

ClinVar RCV:

RCV000541726

RCV002377105

RCV003999344

ClinVar Variation:

468193

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val330Met	CA394315689 NM_001318832.2:c.988G>A