Allele Registry

Canonical Allele Identifier: PA2827008529

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189915

RCV000490959

RCV000546326

ClinVar Variation:

207676

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1017Leu	CA319368 NM_001318829.2:c.3050C>T