Allele Registry

Canonical Allele Identifier: PA2829980174

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000460658

RCV000607342

RCV001021602

RCV004000727

ClinVar Variation:

406131

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Asp1288Glu	CA049880 NM_021055.3:c.3864T>A CA394297754 NM_021055.3:c.3864T>G