Allele Registry

Canonical Allele Identifier: PA916023568

Gene: TSC2 HGNC NCBI

ClinVar Allele:

342264

ClinVar RCV:

RCV000298128

RCV000461333

RCV000765263

RCV001012444

RCV003482249

ClinVar Variation:

318313

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro552Arg	CA031797 NM_001318832.2:c.1655C>G