Allele Registry

Canonical Allele Identifier: PA2825439186

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001975922

RCV001983588

RCV002246632

ClinVar Variation:

1472268

1490108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Val1579Leu	CA394308719 NM_001077183.3:c.4735G>C CA394308723 NM_001077183.3:c.4735G>T