Canonical Allele Identifier: PA2830147725
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285696
ClinVar RCV Id: RCV000291553 RCV000301747 RCV000449495 RCV000538324 RCV003430820 RCV004547703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1383Trp
CA2188511
NM_057166.5:c.4147C>T