Canonical Allele Identifier: PA913196959
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 598299

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu695Gln
CA410541473
NM_001849.4:c.2083G>C