Canonical Allele Identifier: PA2830148661
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287900
ClinVar RCV Id: RCV000382244 RCV001510350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly2563Arg
CA10605907
NM_057166.5:c.7687G>A
CA351185278
NM_057166.5:c.7687G>C