ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580224067
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1975941
ClinVar RCV Id:
RCV002731152
RCV003322927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Gly478Glu
CA2490667
NM_001354604.2:c.1433G>A