Allele Registry

Canonical Allele Identifier: PA2825063171

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV002230825

ClinVar Variation:

409098

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Ser1714del	CA16612688 NM_000093.5:c.5141_5143del