Allele Registry

Canonical Allele Identifier: PA2827003823

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000526703

RCV002350296

ClinVar Variation:

468039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Lys1182Arg	CA048406 NM_001318827.2:c.3545A>G