Canonical Allele Identifier: PA2830149423
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_476508.2:p.Val1130Ile
CA248984
NM_057167.4:c.3388G>A