Allele Registry

Canonical Allele Identifier: PA2827019965

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401415

ClinVar RCV:

RCV000458532

RCV000500804

RCV001022474

RCV004000678

ClinVar Variation:

405956

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ala1423Thr	CA16615031 NM_001318832.2:c.4267G>A