Allele Registry

Canonical Allele Identifier: PA645434658

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401415

ClinVar RCV:

RCV000458532

RCV000500804

RCV001022474

RCV004000678

ClinVar Variation:

405956

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala1479Thr	CA16615031 NM_000548.5:c.4435G>A