Canonical Allele Identifier: PA916054241
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17167
ClinVar RCV Id: RCV000269898 RCV000816890 RCV003764603
ClinVar Variation Id: 871767
ClinVar RCV Id: RCV001091898
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly283Arg
CA127112
NM_058175.3:c.847G>A
CA410524878
NM_058175.3:c.847G>C