Allele Registry

Canonical Allele Identifier: PA2828420648

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644171

RCV002331190

ClinVar Variation:

535938

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro1425Leu	CA051050 NM_001370405.1:c.4274C>T