Allele Registry

Canonical Allele Identifier: PA2828420383

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242304

ClinVar RCV:

RCV000234433

RCV002327110

ClinVar Variation:

238044

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1347Lys	CA050575 NM_001370405.1:c.4039G>A