Canonical Allele Identifier: PA2830147243
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282774
ClinVar RCV Id: RCV000653522 RCV000725141 RCV001139021 RCV001824721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg694Gln
CA2189048
NM_057166.5:c.2081G>A