Allele Registry

Canonical Allele Identifier: PA2828094514

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400919

ClinVar RCV:

RCV000459338

RCV002339131

ClinVar Variation:

406004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Glu1447Lys	CA051548 NM_001363528.2:c.4339G>A