ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882492
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Thr440Asn
CA2490655
NM_001354607.2:c.1319C>A