Canonical Allele Identifier: PA128535
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29644
ClinVar RCV Id: RCV000591047 RCV000778644 RCV001054018 RCV003764622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp871Asn
CA128533
NM_001849.4:c.2611G>A