Canonical Allele Identifier: PA658810711
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500360

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ile955Val
CA10071055
NM_001848.3:c.2863A>G