Allele Registry

Canonical Allele Identifier: PA2827003305

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189915

RCV000490959

RCV000546326

ClinVar Variation:

207676

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Pro1029Leu	CA319368 NM_001318827.2:c.3086C>T