Allele Registry

Canonical Allele Identifier: PA2828420190

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401371

ClinVar RCV:

RCV000473934

RCV002323695

ClinVar Variation:

406097

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ser1291Asn	CA16615016 NM_001370405.1:c.3872G>A