Allele Registry

Canonical Allele Identifier: PA2827011453

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458453

RCV002451086

RCV004000686

ClinVar Variation:

405987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val776Leu	CA039144 NM_001318829.2:c.2326G>C