Canonical Allele Identifier: PA2830149039
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476508
ClinVar RCV Id: RCV000530306 RCV000732713 RCV003329167
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly530Ser
CA2189456
NM_057167.4:c.1588G>A