Allele Registry

Canonical Allele Identifier: PA2828419423

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000130032

RCV000836828

RCV001087672

RCV003997543

ClinVar Variation:

141482

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1065Val	CA018885 NM_001370405.1:c.3194C>T