ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580502177
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_536800.2:p.Pro94Ala
CA351599539
NM_080539.4:c.280C>G