ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882583
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
346494
ClinVar RCV Id:
RCV000288018
RCV000347693
RCV001568741
RCV002520178
RCV003422332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341537.1:p.Met117Val
CA2490366
NM_001354608.2:c.349A>G