Canonical Allele Identifier: PA2830147722
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282207
ClinVar RCV Id: RCV000367029 RCV000653516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val1378Met
CA2188513
NM_057166.5:c.4132G>A