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: PMEL HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011536989.1:p.Ser591Arg	CA385214747 XM_011538687.1:c.1773C>G CA385214748 XM_011538687.1:c.1773C>A CA385214753 XM_011538687.1:c.1771A>C