Canonical Allele Identifier: PA324131
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212933
ClinVar RCV Id: RCV000199581 RCV001853131 RCV003380513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp510Asn
CA324129
NM_001278074.1:c.1528G>A