Allele Registry

Canonical Allele Identifier: PA2825437447

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000456897

RCV001020136

RCV001618706

RCV004533165

ClinVar Variation:

406072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1083Trp	CA046408 NM_001077183.3:c.3247C>T