Canonical Allele Identifier: PA2830147688
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284869
ClinVar RCV Id: RCV000400649 RCV002521927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ser1334Leu
CA2188574
NM_057166.5:c.4001C>T