Allele Registry

Canonical Allele Identifier: PA2829978599

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000130032

RCV000836828

RCV001087672

RCV003997543

ClinVar Variation:

141482

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala1065Val	CA018885 NM_021055.3:c.3194C>T