Canonical Allele Identifier: PA2830431205
Gene: MITF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_937801.1:p.Asp139Glu
CA2490449
NM_198158.3:c.417T>G
CA353561175
NM_198158.3:c.417T>A