ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431448
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937801.1:p.Val314Ile
CA2490634
NM_198158.3:c.940G>A