ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830433597
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Val258Ile
CA2490634
NM_198178.3:c.772G>A