Canonical Allele Identifier: PA241438
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195150
ClinVar RCV Id: RCV000175702 RCV000653530 RCV000724794 RCV000754716 RCV001139936 RCV000764263
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg68Cys
CA241436
NM_001848.3:c.202C>T