Allele Registry

Canonical Allele Identifier: PA2825577259

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545542

RCV004024053

ClinVar Variation:

468126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Thr1638Asn	CA394309184 NM_001114382.3:c.4913C>A