ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499251874
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Gly506Arg
CA2490690
NM_001354604.2:c.1516G>A
CA2490691
NM_001354604.2:c.1516G>C