Allele Registry

Canonical Allele Identifier: PA2827007406

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473625

RCV000570501

ClinVar Variation:

406001

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Asp586Asn	CA16615059 NM_001318829.2:c.1756G>A