ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825105557
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Cys188Tyr
CA353561505
NM_000248.4:c.563G>A