Allele Registry

Canonical Allele Identifier: PA2827006245

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401406

ClinVar RCV:

RCV000458732

RCV002365618

ClinVar Variation:

406031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro183Ser	CA056156 NM_001318829.2:c.547C>T