Allele Registry

Canonical Allele Identifier: PA645435214

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242324

ClinVar RCV:

RCV000229416

RCV002315687

RCV003998834

ClinVar Variation:

238066

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1618Ile	CA052943 NM_000548.5:c.4852G>A