Canonical Allele Identifier: PA2830147762
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476544
ClinVar RCV Id: RCV000540239 RCV003144375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gln1432His
CA2188461
NM_057166.5:c.4296G>C
CA351217794
NM_057166.5:c.4296G>T