ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882092
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341535.1:p.Val420Ile
CA2490634
NM_001354606.2:c.1258G>A