Canonical Allele Identifier: PA658817611
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 502397
ClinVar RCV Id: RCV000596949 RCV000791572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1424His
CA2188959
NM_004369.4:c.4271G>A