Canonical Allele Identifier: PA2580182529
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718977
ClinVar RCV Id: RCV002296740

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Glu401Gln
CA375450685
NM_001278074.1:c.1201G>C