Canonical Allele Identifier: PA645401137
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282543
ClinVar RCV Id: RCV000691051 RCV000725110 RCV002518857 RCV000264328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys610Thr
CA10070637
NM_001848.3:c.1829A>C