Canonical Allele Identifier: PA645454602
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281850
ClinVar RCV Id: RCV000295547 RCV000808592 RCV002518832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg97His
CA2189895
NM_004369.4:c.290G>A