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
ENSP00000449690.1:p.Thr387Ser
CA6620063
ENST00000552882.5:c.1160C>G
CA385217111
ENST00000552882.5:c.1159A>T