Canonical Allele Identifier: PA645500696
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264388
ClinVar RCV Id: RCV002311155 RCV003114437 RCV003325479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Ile1439Thr
CA2021821
NM_000393.5:c.4316T>C