Canonical Allele Identifier: PA2741922037
Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 2687843
ClinVar RCV Id: RCV003488808

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005668.2:p.Gly234Arg
CA351597937
NM_005677.4:c.700G>C
CA351597938
NM_005677.4:c.700G>A