Canonical Allele Identifier: PA2830148353
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1363424
ClinVar RCV Id: RCV002252713 RCV001934892 RCV003375384
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly2166Ser
CA2187576
NM_057166.5:c.6496G>A