Canonical Allele Identifier: PA916053725
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94984
ClinVar RCV Id: RCV000080989 RCV000369989 RCV000534612 RCV001707522 RCV002514421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ile38Val
CA148021
NM_057167.4:c.112A>G