Canonical Allele Identifier: PA2830146556
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335124
ClinVar RCV Id: RCV000349597 RCV003144224 RCV002523124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ala1082Thr
CA2189057
NM_057165.5:c.3244G>A