Allele Registry

Canonical Allele Identifier: PA2827008074

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000164859

RCV000407000

RCV001086946

ClinVar Variation:

185434

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala813Thr	CA017691 NM_001318829.2:c.2437G>A