Allele Registry

Canonical Allele Identifier: PA2829973422

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000478401

RCV000691424

RCV003343855

RCV003470587

ClinVar Variation:

423778

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ser494Phe	CA030798 NM_021055.3:c.1481C>T