Canonical Allele Identifier: PA645401263
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289634
ClinVar RCV Id: RCV000362356 RCV002518094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val876Met
CA10070984
NM_001848.3:c.2626G>A