Canonical Allele Identifier: PA1139686903
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 835881
ClinVar RCV Id: RCV002237127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro1722Thr
CA375460308
NM_001278074.1:c.5164C>A