Canonical Allele Identifier: PA2830148058
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285480
ClinVar RCV Id: RCV000329071 RCV001054907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1785Arg
CA2187878
NM_057166.5:c.5353G>A
CA351204879
NM_057166.5:c.5353G>C