Canonical Allele Identifier: PA915965252
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 653415
ClinVar RCV Id: RCV000997625 RCV002234764
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Ile994Thr
CA349867071
NM_000393.5:c.2981T>C