Allele Registry

Canonical Allele Identifier: PA2828090820

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042935

RCV002513627

ClinVar Variation:

49673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg381Lys	CA013922 NM_001363528.2:c.1142G>A