ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827881657
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000015343
ClinVar Variation:
14273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341534.1:p.Ser356Pro
CA123830
NM_001354605.2:c.1066T>C