Allele Registry

Canonical Allele Identifier: PA2827007676

Gene: TSC2 HGNC NCBI

ClinVar Allele:

27437

ClinVar RCV:

RCV000013207

RCV000042452

ClinVar Variation:

12398

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu668Arg	CA016832 NM_001318829.2:c.2003T>G