Canonical Allele Identifier: PA322001
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213114
ClinVar RCV Id: RCV000197533 RCV000294359 RCV002229091 RCV001197291 RCV002315571
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg1060Trp
CA322000
NM_000393.5:c.3178C>T