ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499247421
Gene: COX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1030367
ClinVar RCV Id:
RCV001331898
RCV001865746
RCV002476548
RCV003169552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001294.2:p.Asp132Tyr
CA8402304
NM_001303.4:c.394G>T