Allele Registry

Canonical Allele Identifier: PA2825438447

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV002332063

RCV003094648

ClinVar Variation:

1739726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1375Ala	CA394301364 NM_001077183.3:c.4124A>C