Canonical Allele Identifier: PA2830148531
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283753
ClinVar RCV Id: RCV000658012 RCV003488497 RCV004547684 RCV001082829
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg2386His
CA2187389
NM_057166.5:c.7157G>A