Allele Registry

Canonical Allele Identifier: PA2829979742

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000526703

RCV002350296

ClinVar Variation:

468039

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Lys1219Arg	CA048406 NM_021055.3:c.3656A>G