Canonical Allele Identifier: PA2830148489
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197416
ClinVar RCV Id: RCV000178441 RCV000286598 RCV002516774 RCV000557223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2333Met
CA245531
NM_057166.5:c.6998C>T