Allele Registry

Canonical Allele Identifier: PA2827003947

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000573012

RCV000644391

RCV001722536

RCV003153748

RCV003230549

RCV004001153

ClinVar Variation:

486629

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val1217Ile	CA049761 NM_001318827.2:c.3649G>A