Canonical Allele Identifier: PA658810632
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498325
ClinVar RCV Id: RCV000597556 RCV000653545
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg682Trp
CA10070729
NM_001848.3:c.2044C>T