Allele Registry

Canonical Allele Identifier: PA2829981347

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401415

ClinVar RCV:

RCV000458532

RCV000500804

RCV001022474

RCV004000678

ClinVar Variation:

405956

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala1436Thr	CA16615031 NM_021055.3:c.4306G>A