Canonical Allele Identifier: PA645401324
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286824
ClinVar RCV Id: RCV000335163 RCV000365797 RCV000546868 RCV001705426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gln1010Arg
CA10071111
NM_001848.3:c.3029A>G