Allele Registry

Canonical Allele Identifier: PA658680679

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000548111

RCV003302845

RCV003999257

ClinVar Variation:

467894

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val591Ile	CA276735673 NM_000548.5:c.1771G>A