Canonical Allele Identifier: PA645455102
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289573
ClinVar RCV Id: RCV000370349 RCV001068738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1252His
CA2189081
NM_004369.4:c.3755G>A