Allele Registry

Canonical Allele Identifier: PA2827019849

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242305

ClinVar RCV:

RCV000232439

RCV000502912

RCV000562405

RCV003998827

RCV004532852

ClinVar Variation:

238045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser1393Phe	CA050898 NM_001318832.2:c.4178C>T