Allele Registry

Canonical Allele Identifier: PA2828419491

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000456897

RCV001020136

RCV001618706

RCV004533165

ClinVar Variation:

406072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1084Trp	CA046408 NM_001370405.1:c.3250C>T