Canonical Allele Identifier: PA2830148690
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282445
ClinVar RCV Id: RCV000303951 RCV000380084 RCV000543340 RCV002295295 RCV002494822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala114Thr
CA2189740
NM_057167.4:c.340G>A