Canonical Allele Identifier: PA2827881358
Gene: MITF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341533.1:p.Asp246Glu
CA2490449
NM_001354604.2:c.738T>G
CA353561175
NM_001354604.2:c.738T>A