Allele Registry

Canonical Allele Identifier: PA2828094246

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477378

ClinVar RCV:

RCV000574628

RCV000706031

ClinVar Variation:

486613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Pro1378Ala	CA394301394 NM_001363528.2:c.4132C>G