Allele Registry

Canonical Allele Identifier: PA2827010748

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000547492

RCV000765259

RCV002341371

RCV003470759

ClinVar Variation:

468130

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Trp118Cys	CA053524 NM_001318829.2:c.354G>C CA394309159 NM_001318829.2:c.354G>T