Allele Registry

Canonical Allele Identifier: PA2829982108

Gene: TSC2 HGNC NCBI

ClinVar Allele:

260091

ClinVar RCV:

RCV000256049

RCV000707658

RCV002338812

ClinVar Variation:

265281

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Glu1540Lys	CA10588598 NM_021055.3:c.4618G>A