Canonical Allele Identifier: PA645401280
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285064
ClinVar RCV Id: RCV000378077 RCV002518957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Tyr922Cys
CA10604987
NM_001848.3:c.2765A>G