Allele Registry

Canonical Allele Identifier: PA321127

Gene: COL5A1 HGNC NCBI

ClinVar Allele:

210129

ClinVar RCV:

RCV000196702

RCV003593934

ClinVar Variation:

213060

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Thr1631Arg	CA321126 NM_000093.5:c.4892C>G