Allele Registry

Canonical Allele Identifier: PA2827005921

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401140

ClinVar RCV:

RCV000471856

RCV001797088

RCV002436401

RCV004000706

RCV004533162

ClinVar Variation:

406038

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro45Leu	CA042049 NM_001318829.2:c.134C>T