Canonical Allele Identifier: PA2830147112
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284774
ClinVar RCV Id: RCV000405233 RCV000689188 RCV000725525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg542Trp
CA2189167
NM_057166.5:c.1624C>T