ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828459530
Gene: COX15
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000195853
RCV000321049
RCV003927838
ClinVar Variation:
214263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358954.1:p.Pro310Arg
CA320228
NM_001372025.1:c.929C>G