Canonical Allele Identifier: PA2573193024
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1345121
ClinVar RCV Id: RCV002034940

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Leu43Arg
CA375440327
NM_001278074.1:c.128T>G