Canonical Allele Identifier: PA645455550
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 430200
ClinVar RCV Id: RCV000494209 RCV002524044 RCV001326535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Glu3149Lys
CA2187271
NM_004369.4:c.9445G>A