Canonical Allele Identifier: PA2826252747
Gene: PMEL HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186982.1:p.Glu284Asp
CA6620070
NM_001200053.1:c.852G>C
CA385217279
NM_001200053.1:c.852G>T