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
ENSP00000448029.1:p.Lys251Asn
CA385214822
ENST00000550447.5:c.753G>T
CA385214823
ENST00000550447.5:c.753G>C