Canonical Allele Identifier: PA2830148153
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289363
ClinVar RCV Id: RCV000321712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val1887Leu
CA10606424
NM_057166.5:c.5659G>T
CA351202707
NM_057166.5:c.5659G>C