Allele Registry

Canonical Allele Identifier: PA2825575243

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190014

RCV000562972

RCV000766975

RCV001085820

RCV003462294

RCV003996892

RCV004528972

ClinVar Variation:

207741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu1049Lys	CA319501 NM_001114382.3:c.3145G>A