Allele Registry

Canonical Allele Identifier: PA916023501

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59356

ClinVar RCV:

RCV000043463

RCV000807349

ClinVar Variation:

50194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Leu477Pro	CA014733 NM_001318832.2:c.1430T>C