Allele Registry

Canonical Allele Identifier: PA645434883

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000228875

RCV000477702

RCV000564060

RCV003235153

RCV003998831

ClinVar Variation:

238056

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1547Ile	CA051988 NM_000548.5:c.4639G>A