ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830156624
Gene: COLQ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1046437
ClinVar RCV Id:
RCV001350996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536799.1:p.Arg226Gln
CA2276018
NM_080538.2:c.677G>A