Canonical Allele Identifier: PA2830147270
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 218630
ClinVar RCV Id: RCV000202790 RCV000539163 RCV001083049 RCV004553105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val729Ile
CA248984
NM_057166.5:c.2185G>A