ClinGen Allele Registry
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Canonical Allele Identifier:
PA128651
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Glu318Lys
CA128649
NM_000248.4:c.952G>A