ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882708
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000416288
RCV000416308
ClinVar Variation:
375216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341537.1:p.Arg266Gly
CA16044011
NM_001354608.2:c.796A>G