Canonical Allele Identifier: PA2830149071
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499099
ClinVar RCV Id: RCV000597561 RCV000653557 RCV002224968 RCV003483687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala563Val
CA2189430
NM_057167.4:c.1688C>T