Allele Registry

Canonical Allele Identifier: PA916023415

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545351

RCV001010318

RCV003999246

ClinVar Variation:

467848

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gly413Arg	CA028779 NM_001318832.2:c.1237G>A CA394320813 NM_001318832.2:c.1237G>C