Canonical Allele Identifier: PA2830150436
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_476508.2:p.Arg2295His
CA200149
NM_057167.4:c.6884G>A