Allele Registry

Canonical Allele Identifier: PA319490

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000468262

RCV000575026

RCV001705072

RCV003996890

ClinVar Variation:

207736

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu51Ala	CA030988 NM_000548.5:c.152A>C