Allele Registry

Canonical Allele Identifier: PA2828419944

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000526703

RCV002350296

ClinVar Variation:

468039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Lys1219Arg	CA048406 NM_001370405.1:c.3656A>G