Canonical Allele Identifier: PA2830146359
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499309
ClinVar RCV Id: RCV000597773 RCV001206779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Asp857Asn
CA2189224
NM_057165.5:c.2569G>A