Canonical Allele Identifier: PA2830148649
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499886
ClinVar RCV Id: RCV000595045 RCV001070813
ClinVar Variation Id: 2440442
ClinVar RCV Id: RCV003145823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly2546Arg
CA2187269
NM_057166.5:c.7636G>C
CA351185400
NM_057166.5:c.7636G>A