ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830156884
Gene: COLQ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536800.2:p.Pro280Leu
CA70602964
NM_080539.4:c.839C>T