Canonical Allele Identifier: PA2830148155
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 192264
ClinVar RCV Id: RCV000172852 RCV000389218 RCV001372713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1894His
CA200149
NM_057166.5:c.5681G>A