Canonical Allele Identifier: PA645455101
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285636
ClinVar RCV Id: RCV000365975 RCV001064513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1252Cys
CA2189082
NM_004369.4:c.3754C>T