Canonical Allele Identifier: PA658701522
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 493328
ClinVar RCV Id: RCV000584913 RCV000653580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg876His
CA321979833
NM_001849.4:c.2627G>A