Canonical Allele Identifier: PA645500634
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 420270
ClinVar RCV Id: RCV000480004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Leu1364Ile
CA2021863
NM_000393.5:c.4090C>A