Canonical Allele Identifier: PA2830147249
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199093
ClinVar RCV Id: RCV000180600 RCV000803816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg701Gln
CA248099
NM_057166.5:c.2102G>A