Canonical Allele Identifier: PA2830150621
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 657835
ClinVar RCV Id: RCV000814533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Glu2547Lys
CA351195762
NM_057167.4:c.7639G>A