Canonical Allele Identifier: PA645433050
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282440
ClinVar RCV Id: RCV000368026 RCV002518853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val158Met
CA10071306
NM_001849.4:c.472G>A