Allele Registry

Canonical Allele Identifier: PA264710

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055531

RCV001388145

ClinVar Variation:

65309

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1044Lys	CA018596 NM_000548.5:c.3131G>A