Allele Registry

Canonical Allele Identifier: PA319525

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000713931

RCV001087396

RCV002257482

RCV003996894

ClinVar Variation:

207750

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1344Lys	CA050233 NM_000548.5:c.4030G>A