Allele Registry

Canonical Allele Identifier: PA916022813

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76241

ClinVar RCV:

RCV000055531

RCV001388145

ClinVar Variation:

65309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg964Lys	CA018596 NM_001318827.2:c.2891G>A