ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829651352
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099416
ClinVar RCV Id:
RCV003021712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006713.1:p.Ala392Val
CA2490622
NM_006722.2:c.1175C>T