Canonical Allele Identifier: PA2830147410
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 259301
ClinVar RCV Id: RCV000243769 RCV000543223 RCV000727538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala1010Thr
CA2188802
NM_057166.5:c.3028G>A