Allele Registry

Canonical Allele Identifier: PA2828420826

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400919

ClinVar RCV:

RCV000459338

RCV002339131

ClinVar Variation:

406004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1470Lys	CA051548 NM_001370405.1:c.4408G>A