Allele Registry

Canonical Allele Identifier: PA2825573323

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203113

ClinVar RCV:

RCV000189980

RCV000549657

RCV003380512

RCV003996883

ClinVar Variation:

207715

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Val461Met	CA319441 NM_001114382.3:c.1381G>A