ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144004
Gene: COX20
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55889
ClinVar RCV Id:
RCV000049300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932342.1:p.Thr52Pro
CA144003
NM_198076.6:c.154A>C