Allele Registry

Canonical Allele Identifier: PA2827020954

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042731

RCV000190076

RCV000201065

RCV000491169

RCV000763368

RCV004537168

ClinVar Variation:

49471

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1687Trp	CA022213 NM_001318832.2:c.5059C>T