Allele Registry

Canonical Allele Identifier: PA281494

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000178644

RCV002517740

ClinVar Variation:

197581

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Gly1261Arg	CA281492 NM_001278074.1:c.3781G>A CA375454897 NM_001278074.1:c.3781G>C