Allele Registry

Canonical Allele Identifier: PA2825435183

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58835

ClinVar RCV:

RCV000042935

RCV002513627

ClinVar Variation:

49673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg381Lys	CA013922 NM_001077183.3:c.1142G>A