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
ENSP00000450036.1:p.Ser548Arg
CA385214739
ENST00000550464.5:c.1644C>G
CA385214740
ENST00000550464.5:c.1644C>A
CA385214745
ENST00000550464.5:c.1642A>C