Canonical Allele Identifier: PA2830147031
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_476507.3:p.Asp456Asn
CA2189224
NM_057166.5:c.1366G>A