Canonical Allele Identifier: PA2830148580
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335097
ClinVar RCV Id: RCV000428268 RCV002298572 RCV004549762 RCV000396697 RCV000653682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2443Thr
CA2187346
NM_057166.5:c.7327G>A