Canonical Allele Identifier: PA2830149491
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_476508.2:p.Arg1189Gln
CA147959
NM_057167.4:c.3566G>A