Allele Registry

Canonical Allele Identifier: PA262683

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042724

RCV001508405

RCV001852888

RCV003162357

RCV003513445

ClinVar Variation:

49464

2728549

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly1595Arg	CA021000 NM_000548.5:c.4783G>A CA394307955 NM_000548.5:c.4783G>C