ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499271669
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_005668.2:p.Arg236Gln
CA2276018
NM_005677.4:c.707G>A