Canonical Allele Identifier: PA645499471
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 380308
ClinVar RCV Id: RCV000432639 RCV002230243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro1529His
CA5320356
NM_001278074.1:c.4586C>A