Allele Registry

Canonical Allele Identifier: PA2827006902

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043463

RCV000807349

ClinVar Variation:

50194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu417Pro	CA014733 NM_001318829.2:c.1250T>C