ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499251866
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Gly351Glu
CA353561919
NM_001354604.2:c.1052G>A