Canonical Allele Identifier: PA2830433479
Gene: MITF HGNC NCBI
ClinVar RCV:
RCV000015343
ClinVar Variation:
14273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_937821.2:p.Ser188Pro
CA123830
NM_198178.3:c.562T>C