Canonical Allele Identifier: PA320028
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213130
ClinVar RCV Id: RCV000195660 RCV001535719 RCV002229474 RCV003114352 RCV002327035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg1453Gln
CA320027
NM_000393.5:c.4358G>A