Allele Registry

Canonical Allele Identifier: PA2827020566

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001975922

RCV001983588

RCV002246632

ClinVar Variation:

1472268

1490108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val1590Leu	CA394308719 NM_001318832.2:c.4768G>C CA394308723 NM_001318832.2:c.4768G>T