Allele Registry

Canonical Allele Identifier: PA2828095371

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042731

RCV000190076

RCV000201065

RCV000491169

RCV000763368

RCV004537168

ClinVar Variation:

49471

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1677Trp	CA022213 NM_001363528.2:c.5029C>T