Canonical Allele Identifier: PA2830147337
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94929
ClinVar RCV Id: RCV000080934 RCV000362566 RCV000417628 RCV001079176 RCV002483144 RCV002298466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg788Gln
CA147959
NM_057166.5:c.2363G>A