Canonical Allele Identifier: PA320657
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212999
ClinVar RCV Id: RCV000196237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Asp1777Asn
CA320656
NM_000093.5:c.5329G>A