Canonical Allele Identifier: PA658666661
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449639
ClinVar RCV Id: RCV000522343 RCV002231210 RCV002329236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Arg1391His
CA2021831
NM_000393.5:c.4172G>A