Canonical Allele Identifier: PA2830147477
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476532
ClinVar RCV Id: RCV000551304 RCV003144373 RCV003159937
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val1103Ile
CA2188739
NM_057166.5:c.3307G>A