ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827881598
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341534.1:p.Ala293Val
CA2490507
NM_001354605.2:c.878C>T