Allele Registry

Canonical Allele Identifier: PA264643

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055437

RCV001730486

RCV002381358

ClinVar Variation:

65217

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val334Ala	CA013517 NM_000548.5:c.1001T>C