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Canonical Allele Identifier: Get Identifier
Gene: PMEL HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000450036.1:p.[Thr335_Trp337delinsArg;Glu339_Glu351delinsGly;Pro353del;Ala355His;Ser357_Thr365del]
CA2619240920
ENST00000550464.5:c.1004_1005del