Allele Registry

Canonical Allele Identifier: PA658681165

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000563553

RCV000983892

RCV003392417

RCV004001165

ClinVar Variation:

486660

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1353Ile	CA050315 NM_000548.5:c.4057G>A