Allele Registry

Canonical Allele Identifier: PA2827004471

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458065

RCV001022436

RCV001529238

RCV004000720

ClinVar Variation:

406108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1367Cys	CA051067 NM_001318827.2:c.4099C>T