Canonical Allele Identifier: PA2830147625
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286465
ClinVar RCV Id: RCV000263794 RCV000416242 RCV000542511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1272Ser
CA2188621
NM_057166.5:c.3814G>A