Allele Registry

Canonical Allele Identifier: PA2825438080

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473934

RCV002323695

ClinVar Variation:

406097

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser1267Asn	CA16615016 NM_001077183.3:c.3800G>A