Canonical Allele Identifier: PA916053628
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476523
ClinVar RCV Id: RCV000546203 RCV000727675 RCV000765643
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ile830Phe
CA2188918
NM_057166.5:c.2488A>T