Allele Registry

Canonical Allele Identifier: PA2827003777

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000460265

RCV002365619

ClinVar Variation:

406101

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Thr1167Ala	CA048226 NM_001318827.2:c.3499A>G