Allele Registry

Canonical Allele Identifier: PA2825576734

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400919

ClinVar RCV:

RCV000459338

RCV002339131

ClinVar Variation:

406004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu1490Lys	CA051548 NM_001114382.3:c.4468G>A