Canonical Allele Identifier: PA2830150928
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499886
ClinVar RCV Id: RCV000595045 RCV001070813
ClinVar Variation Id: 2440442
ClinVar RCV Id: RCV003145823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly2947Arg
CA2187269
NM_057167.4:c.8839G>C
CA351185400
NM_057167.4:c.8839G>A