ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431908
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Gly345Glu
CA353561919
NM_198159.3:c.1034G>A