Canonical Allele Identifier: PA2825060633
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1345121
ClinVar RCV Id: RCV002034940

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Leu43Arg
CA375440327
NM_000093.5:c.128T>G