Canonical Allele Identifier: PA2830147083
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285984
ClinVar RCV Id: RCV000725760 RCV000801843 RCV002519202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala504Thr
CA2189184
NM_057166.5:c.1510G>A