Canonical Allele Identifier: PA645400880
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283547
ClinVar RCV Id: RCV000399914 RCV002518884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg262Trp
CA10069750
NM_001848.3:c.784C>T