Canonical Allele Identifier: PA2830149946
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374770
ClinVar RCV Id: RCV000415802 RCV000653546
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg1709Trp
CA2188588
NM_057167.4:c.5125C>T