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Canonical Allele Identifier: Get Identifier
Gene: PMEL HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447374.1:p.[Gly650_Ser653delinsValArgThrAla;Leu655_Ser657delinsSerSerVal;Gln659_Val661delinsSerArgSerGluTyrSerHisMetMetLeu]
CA2619237850
ENST00000548493.5:c.1949del