Canonical Allele Identifier: PA916053451
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335126
ClinVar RCV Id: RCV000392690 RCV000733500 RCV001087853 RCV002252099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Val844Ile
CA2189083
NM_057164.5:c.2530G>A