Allele Registry

Canonical Allele Identifier: PA916023171

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644165

RCV002388092

ClinVar Variation:

535934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg36Lys	CA056318 NM_001318832.2:c.107G>A