Canonical Allele Identifier: PA658676933
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476536
ClinVar RCV Id: RCV000531292 RCV003144374 RCV003352926 RCV004553251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1886His
CA2188612
NM_004369.4:c.5657G>A