Allele Registry

Canonical Allele Identifier: PA2827020098

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400919

ClinVar RCV:

RCV000459338

RCV002339131

ClinVar Variation:

406004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu1457Lys	CA051548 NM_001318832.2:c.4369G>A