Canonical Allele Identifier: PA2830148196
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542979
ClinVar RCV Id: RCV000653550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gln1949His
CA351201429
NM_057166.5:c.5847G>T
CA351201431
NM_057166.5:c.5847G>C