Canonical Allele Identifier: PA645454727
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283322
ClinVar RCV Id: RCV000404558 RCV001855121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg406His
CA2189680
NM_004369.4:c.1217G>A