Allele Registry

Canonical Allele Identifier: PA2828411217

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59356

ClinVar RCV:

RCV000043463

RCV000807349

ClinVar Variation:

50194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Leu466Pro	CA014733 NM_001370404.1:c.1397T>C