Canonical Allele Identifier: PA2741849005
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015751
ClinVar RCV Id: RCV003873838

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Arg410Gly
CA375450839
NM_001278074.1:c.1228C>G