Allele Registry

Canonical Allele Identifier: PA2827010921

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545542

RCV004024053

ClinVar Variation:

468126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Thr1546Asn	CA394309184 NM_001318829.2:c.4637C>A