ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825105538
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2931438
ClinVar RCV Id:
RCV003785140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Gln161Arg
CA77001738
NM_000248.4:c.482A>G