Allele Registry

Canonical Allele Identifier: PA645432094

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000459822

RCV001584142

RCV002411436

RCV004000725

RCV004529591

ClinVar Variation:

406127

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser625Leu	CA034344 NM_000548.5:c.1874C>T