Allele Registry

Canonical Allele Identifier: PA2825186945

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV002332063

RCV003094648

ClinVar Variation:

1739726

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1442Ala	CA394301364 NM_000548.5:c.4325A>C