Canonical Allele Identifier: PA2830149980
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476541
ClinVar RCV Id: RCV000537596 RCV001591299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly1751Arg
CA2188547
NM_057167.4:c.5251G>A
CA351219863
NM_057167.4:c.5251G>C