ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830432543
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937820.1:p.Gln116Lys
CA2490352
NM_198177.3:c.346C>A