ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580186296
Gene: COX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2176831
ClinVar RCV Id:
RCV002585230
RCV002602716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001294.2:p.Ala175Val
CA8402349
NM_001303.4:c.524C>T