Canonical Allele Identifier: PA2830149976
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335116
ClinVar RCV Id: RCV000314267 RCV001597100 RCV002519952 RCV003137960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val1739Met
CA2188571
NM_057167.4:c.5215G>A