Canonical Allele Identifier: PA916053762
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162547
ClinVar RCV Id: RCV000247969 RCV000515295 RCV000653501 RCV000724543 RCV001139121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Lys808Glu
CA247184
NM_057167.4:c.2422A>G