Allele Registry

Canonical Allele Identifier: PA916023684

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000459822

RCV001584142

RCV002411436

RCV004000725

RCV004529591

ClinVar Variation:

406127

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser636Leu	CA034344 NM_001318832.2:c.1907C>T