Canonical Allele Identifier: PA2830156623
Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 2687843
ClinVar RCV Id: RCV003488808

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_536799.1:p.Gly224Arg
CA351597937
NM_080538.2:c.670G>C
CA351597938
NM_080538.2:c.670G>A