Canonical Allele Identifier: PA206464
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210747
ClinVar RCV Id: RCV000193161 RCV000387708 RCV001208362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg830Gln
CA206462
NM_001849.4:c.2489G>A