Canonical Allele Identifier: PA2830148828
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197761
ClinVar RCV Id: RCV000178890 RCV000267124 RCV000557584 RCV001753582 RCV002298505 RCV004553011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val287Ala
CA203065
NM_057167.4:c.860T>C