Canonical Allele Identifier: PA2499244828
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1163514

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Thr408Met
CA5318679
NM_001278074.1:c.1223C>T