Allele Registry

Canonical Allele Identifier: PA2828093947

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000563553

RCV000983892

RCV003392417

RCV004001165

ClinVar Variation:

486660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Val1287Ile	CA050315 NM_001363528.2:c.3859G>A