Canonical Allele Identifier: PA320340
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213067
ClinVar RCV Id: RCV000195957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Phe1829Cys
CA320339
NM_000093.5:c.5486T>G