Canonical Allele Identifier: PA222590
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94910
ClinVar RCV Id: RCV000080915 RCV000349518 RCV000585455 RCV001080317 RCV004549507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp563Gly
CA222588
NM_004369.4:c.1688A>G