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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011536988.1:p.Gln594His
CA385214774
XM_011538686.1:c.1782G>T
CA385214775
XM_011538686.1:c.1782G>C