Canonical Allele Identifier: PA2825063219
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1746458
ClinVar RCV Id: RCV002341039

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Ala1755Val
CA5320678
NM_000093.5:c.5264C>T