Allele Registry

Canonical Allele Identifier: PA2827009116

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529648

ClinVar RCV:

RCV000644155

RCV001021583

ClinVar Variation:

535925

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg1214Cys	CA049839 NM_001318829.2:c.3640C>T