Allele Registry

Canonical Allele Identifier: PA2828419204

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76241

ClinVar RCV:

RCV000055531

RCV001388145

ClinVar Variation:

65309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1001Lys	CA018596 NM_001370405.1:c.3002G>A