Allele Registry

Canonical Allele Identifier: PA2827020394

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042724

RCV001508405

RCV001852888

RCV003162357

RCV003513445

ClinVar Variation:

49464

2728549

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gly1539Arg	CA021000 NM_001318832.2:c.4615G>A CA394307955 NM_001318832.2:c.4615G>C