Allele Registry

Canonical Allele Identifier: PA319370

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189915

RCV000490959

RCV000546326

ClinVar Variation:

207676

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1109Leu	CA319368 NM_000548.5:c.3326C>T