Allele Registry

Canonical Allele Identifier: PA2825435193

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000570261

RCV001054845

RCV004001174

ClinVar Variation:

486691

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.His385Arg	CA028650 NM_001077183.3:c.1154A>G