ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580318087
Gene: COLQ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005668.2:p.Gly192Ser
CA70616089
NM_005677.4:c.574G>A