Allele Registry

Canonical Allele Identifier: PA2827004005

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473934

RCV002323695

ClinVar Variation:

406097

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser1231Asn	CA16615016 NM_001318827.2:c.3692G>A