Canonical Allele Identifier: PA2830149565
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 451667
ClinVar RCV Id: RCV000520483 RCV000653583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val1272Met
CA2188895
NM_057167.4:c.3814G>A