Canonical Allele Identifier: PA645401126
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285078
ClinVar RCV Id: RCV000308502 RCV001086048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala570Thr
CA10070494
NM_001848.3:c.1708G>A