Allele Registry

Canonical Allele Identifier: PA2825576358

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203189

ClinVar RCV:

RCV000915945

RCV001022088

RCV001721232

RCV003996869

ClinVar Variation:

207683

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Arg1386Gln	CA050701 NM_001114382.3:c.4157G>A