Allele Registry

Canonical Allele Identifier: PA2827001857

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000459822

RCV001584142

RCV002411436

RCV004000725

RCV004529591

ClinVar Variation:

406127

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser588Leu	CA034344 NM_001318827.2:c.1763C>T