Allele Registry

Canonical Allele Identifier: PA2828420950

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242315

ClinVar RCV:

RCV000228875

RCV000477702

RCV000564060

RCV003235153

RCV003998831

ClinVar Variation:

238056

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val1504Ile	CA051988 NM_001370405.1:c.4510G>A