Canonical Allele Identifier: PA2825062902
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365728

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Pro1457Leu
CA5320257
NM_000093.5:c.4370C>T