Allele Registry

Canonical Allele Identifier: PA2827010139

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000469448

RCV001023350

ClinVar Variation:

406065

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Lys1543Arg	CA16615040 NM_001318829.2:c.4628A>G