Canonical Allele Identifier: PA2830149969
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284869
ClinVar RCV Id: RCV000400649 RCV002521927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser1735Leu
CA2188574
NM_057167.4:c.5204C>T