Canonical Allele Identifier: PA2830156835
Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 2687843
ClinVar RCV Id: RCV003488808

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_536800.2:p.Gly200Arg
CA351597937
NM_080539.4:c.598G>C
CA351597938
NM_080539.4:c.598G>A