ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829651242
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_006713.1:p.Arg317Gly
CA16044011
NM_006722.2:c.949A>G