Canonical Allele Identifier: PA916053413
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425260
ClinVar RCV Id: RCV000821173 RCV000487720 RCV001731716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Leu816Pro
CA2189121
NM_057164.5:c.2447T>C