Allele Registry

Canonical Allele Identifier: PA658681043

Gene: TSC2 HGNC NCBI

ClinVar Allele:

466002

ClinVar RCV:

RCV000543971

RCV002456156

RCV003999289

ClinVar Variation:

468013

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1139Ile	CA046764 NM_000548.5:c.3415G>A