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_016857517.1:p.His4753Gln	CA345423040 XM_017002028.1:c.14259C>G CA345423041 XM_017002028.1:c.14259C>A