Canonical Allele Identifier: PA2825063190
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 846013
ClinVar RCV Id: RCV002240200

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Arg1732Gln
CA5320666
NM_000093.5:c.5195G>A