ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882117
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341535.1:p.Phe450Ser
CA2490649
NM_001354606.2:c.1349T>C