ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431684
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_937802.1:p.Met169Val
CA2490366
NM_198159.3:c.505A>G