Canonical Allele Identifier: PA243747
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196680
ClinVar RCV Id: RCV000253738 RCV000268594 RCV000585392 RCV000653535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg682Gln
CA243745
NM_001848.3:c.2045G>A