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Canonical Allele Identifier: Get Identifier
Gene: PMEL HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307051.1:p.[Thr379_Trp381delinsArg;Glu383_Glu395delinsGly;Pro397del;Ala399His;Ser401_Thr409del]
CA2619240920
NM_001320122.1:c.1136_1137del