Canonical Allele Identifier: PA246111
Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 197779
ClinVar RCV Id: RCV000178910 RCV000687069
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005668.2:p.Lys131Glu
CA246110
NM_005677.4:c.391A>G