Canonical Allele Identifier: PA645401191
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285956
ClinVar RCV Id: RCV000318484 RCV001368237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg722His
CA10070785
NM_001848.3:c.2165G>A