Allele Registry

Canonical Allele Identifier: PA2827005742

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189951

RCV000696799

RCV002345683

ClinVar Variation:

207696

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ile1694Leu	CA319402 NM_001318827.2:c.5080A>C