Canonical Allele Identifier: PA2825063192
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 843180

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Arg1732Trp
CA5320665
NM_000093.5:c.5194C>T