Allele Registry

Canonical Allele Identifier: PA2827001013

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042935

RCV002513627

ClinVar Variation:

49673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg344Lys	CA013922 NM_001318827.2:c.1031G>A