Allele Registry

Canonical Allele Identifier: PA2825437718

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59310

ClinVar RCV:

RCV000043416

RCV000201026

RCV000414012

ClinVar Variation:

50148

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Gly1160Glu	CA019384 NM_001077183.3:c.3479G>A