Canonical Allele Identifier: PA2830150442
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290462
ClinVar RCV Id: RCV000333171 RCV000696056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly2299Arg
CA2187792
NM_057167.4:c.6895G>A
CA351202467
NM_057167.4:c.6895G>C