Canonical Allele Identifier: PA098478
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17168
ClinVar RCV Id: RCV000653500 RCV000710888 RCV001138981 RCV001138980 RCV003764604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg498His
CA257730
NM_001849.4:c.1493G>A