Allele Registry

Canonical Allele Identifier: PA2828413805

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000526703

RCV002350296

ClinVar Variation:

468039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Lys1218Arg	CA048406 NM_001370404.1:c.3653A>G