Canonical Allele Identifier: PA2829326476
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3147678
ClinVar RCV Id: RCV004437511

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ile327Val
CA10069946
NM_001848.3:c.979A>G