Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: RYR2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006711869.1:p.His4748Gln	CA345423040 XM_006711806.3:c.14244C>G CA345423041 XM_006711806.3:c.14244C>A