Canonical Allele Identifier: PA645455041
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284057
ClinVar RCV Id: RCV000406679 RCV000793471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg740His
CA2189453
NM_004369.4:c.2219G>A