Allele Registry

Canonical Allele Identifier: PA2829980187

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473934

RCV002323695

ClinVar Variation:

406097

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ser1291Asn	CA16615016 NM_021055.3:c.3872G>A