Canonical Allele Identifier: PA320873
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213037
ClinVar RCV Id: RCV000196460 RCV002228857 RCV002399720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Arg525Gln
CA320871
NM_001278074.1:c.1574G>A