ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827881360
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Pro247Ser
CA2490451
NM_001354604.2:c.739C>T