ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573087453
Gene: COLQ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005668.2:p.Pro314Leu
CA70602964
NM_005677.4:c.941C>T