Canonical Allele Identifier: PA2825061599
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2177181
ClinVar RCV Id: RCV002585410

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Arg525Trp
CA5318873
NM_000093.5:c.1573C>T