Allele Registry

Canonical Allele Identifier: PA2829973731

Gene: TSC2 HGNC NCBI

ClinVar Allele:

342264

ClinVar RCV:

RCV000298128

RCV000461333

RCV000765263

RCV001012444

RCV003482249

ClinVar Variation:

318313

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro541Arg	CA031797 NM_021055.3:c.1622C>G