Canonical Allele Identifier: PA2580115670
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200262
ClinVar RCV Id: RCV002654674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg1001His
CA349866971
NM_000393.5:c.3002G>A