Allele Registry

Canonical Allele Identifier: PA2827014913

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000516748

RCV001857933

ClinVar Variation:

448730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gly1081Asp	CA049827 NM_001318831.2:c.3242G>A