Canonical Allele Identifier: PA2830148320
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 224696
ClinVar RCV Id: RCV000233428 RCV000327869 RCV000686686 RCV001589105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ile2116Thr
CA2187607
NM_057166.5:c.6347T>C