Canonical Allele Identifier: PA320293
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213153
ClinVar RCV Id: RCV000195911 RCV002229479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg1001Cys
CA320292
NM_000393.5:c.3001C>T