Allele Registry

Canonical Allele Identifier: PA2827019653

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242304

ClinVar RCV:

RCV000234433

RCV002327110

ClinVar Variation:

238044

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu1334Lys	CA050575 NM_001318832.2:c.4000G>A