Allele Registry

Canonical Allele Identifier: PA2828095038

Gene: TSC2 HGNC NCBI

ClinVar Allele:

466317

ClinVar RCV:

RCV000545542

RCV004024053

ClinVar Variation:

468126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Thr1595Asn	CA394309184 NM_001363528.2:c.4784C>A