Canonical Allele Identifier: PA246676
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198165
ClinVar RCV Id: RCV000179433 RCV002517751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val650Ile
CA246674
NM_004369.4:c.1948G>A