Allele Registry

Canonical Allele Identifier: PA2825576900

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58956

ClinVar RCV:

RCV000043059

RCV001054560

RCV001200217

RCV003162358

ClinVar Variation:

49794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu1535Lys	CA020888 NM_001114382.3:c.4603G>A