Canonical Allele Identifier: PA2827882393
Gene: MITF HGNC NCBI
ClinVar RCV:
RCV000015343
ClinVar Variation:
14273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341536.1:p.Ser334Pro
CA123830
NM_001354607.2:c.1000T>C