Canonical Allele Identifier: PA2830147150
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198791
ClinVar RCV Id: RCV000180242 RCV001852242 RCV003398904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val590Ile
CA247620
NM_057166.5:c.1768G>A