ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145474
Gene: COQ8B
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_079152.3:p.Glu483Ter
NM_024876.4:c.1447G>T