Allele Registry

Canonical Allele Identifier: PA2827006843

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055502

RCV000760985

ClinVar Variation:

65281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu399Pro	CA014458 NM_001318829.2:c.1196T>C