Allele Registry

Canonical Allele Identifier: PA2827005111

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001975922

RCV001983588

RCV002246632

ClinVar Variation:

1472268

1490108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val1543Leu	CA394308719 NM_001318827.2:c.4627G>C CA394308723 NM_001318827.2:c.4627G>T