Allele Registry

Canonical Allele Identifier: PA2825437162

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055531

RCV001388145

ClinVar Variation:

65309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1000Lys	CA018596 NM_001077183.3:c.2999G>A