Allele Registry

Canonical Allele Identifier: PA645434724

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000470481

RCV000517116

RCV000562149

RCV004000719

ClinVar Variation:

406105

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala1486Val	CA051222 NM_000548.5:c.4457C>T