Canonical Allele Identifier: PA645401275
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284129
ClinVar RCV Id: RCV000296391 RCV000326450 RCV001206342 RCV002519143
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg888Trp
CA10070995
NM_001848.3:c.2662C>T