ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499303400
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Gly48Asp
CA2490406
NM_198178.3:c.143G>A