Allele Registry

Canonical Allele Identifier: PA2827008739

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000573474

RCV000644372

RCV001722537

RCV004001154

ClinVar Variation:

486630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg1082Gln	CA047301 NM_001318829.2:c.3245G>A