Canonical Allele Identifier: PA2580182538
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2177181
ClinVar RCV Id: RCV002585410

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Arg525Trp
CA5318873
NM_001278074.1:c.1573C>T