Allele Registry

Canonical Allele Identifier: PA2825438717

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400919

ClinVar RCV:

RCV000459338

RCV002339131

ClinVar Variation:

406004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1446Lys	CA051548 NM_001077183.3:c.4336G>A