Canonical Allele Identifier: PA2830147971
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476549
ClinVar RCV Id: RCV000549430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1678Arg
CA351209192
NM_057166.5:c.5032G>C
CA351209193
NM_057166.5:c.5032G>A