ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA290481
Gene: COX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137010
ClinVar RCV Id:
RCV000124575
RCV000223992
RCV001124728
RCV001124729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001294.2:p.Arg228Cys
CA290480
NM_001303.4:c.682C>T