Allele Registry

Canonical Allele Identifier: PA2827000844

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465858

ClinVar RCV:

RCV000559621

RCV002384165

ClinVar Variation:

468197

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu295Lys	CA276776600 NM_001318827.2:c.883G>A