ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830156563
Gene: COLQ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1986219
ClinVar RCV Id:
RCV002786015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536799.1:p.Pro118Ala
CA351599539
NM_080538.2:c.352C>G