Canonical Allele Identifier: PA2830146550
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 266039
ClinVar RCV Id: RCV000256486 RCV000291174 RCV000498501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Val1076Met
CA2189061
NM_057165.5:c.3226G>A