Canonical Allele Identifier: PA645499639
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255097
ClinVar RCV Id: RCV000254377 RCV003144174 RCV003593944
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ala1736Thr
CA5320670
NM_001278074.1:c.5206G>A