Allele Registry

Canonical Allele Identifier: PA2828420557

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV002332063

RCV003094648

ClinVar Variation:

1739726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1399Ala	CA394301364 NM_001370405.1:c.4196A>C