Allele Registry

Canonical Allele Identifier: PA645434818

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400919

ClinVar RCV:

RCV000459338

RCV002339131

ClinVar Variation:

406004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1513Lys	CA051548 NM_000548.5:c.4537G>A