ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825105575
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375216
ClinVar RCV Id:
RCV000416308
RCV000416288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Arg217Gly
CA16044011
NM_000248.4:c.649A>G