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: RPE65 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_016857516.1:p.Ser400Arg	CA340741396 XM_017002027.1:c.1200C>G CA340741399 XM_017002027.1:c.1200C>A CA340741415 XM_017002027.1:c.1198A>C