Canonical Allele Identifier: PA2830148106
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476555
ClinVar RCV Id: RCV000559787

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1837Pro
CA351203731
NM_057166.5:c.5510G>C