ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830156751
Gene: COLQ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536799.1:p.Cys430Arg
CA351595240
NM_080538.2:c.1288T>C