Canonical Allele Identifier: PA2830147039
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284121
ClinVar RCV Id: RCV000390311 RCV000692494 RCV001329868 RCV004021151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val460Met
CA2189218
NM_057166.5:c.1378G>A