Canonical Allele Identifier: PA2830150471
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335106
ClinVar RCV Id: RCV000363519

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gln2344Pro
CA10613193
NM_057167.4:c.7031A>C