Allele Registry

Canonical Allele Identifier: PA2828409771

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644165

RCV002388092

ClinVar Variation:

535934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg25Lys	CA056318 NM_001370404.1:c.74G>A