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Canonical Allele Identifier: Get Identifier
Gene: PMEL HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186982.1:p.Met314Ile
CA385216971
NM_001200053.1:c.942G>T
CA385216973
NM_001200053.1:c.942G>C
CA385216975
NM_001200053.1:c.942G>A