Canonical Allele Identifier: PA2825063260
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 487457
ClinVar RCV Id: RCV000576704 RCV002232468 RCV004024586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Arg1783His
CA5320694
NM_000093.5:c.5348G>A