Allele Registry

Canonical Allele Identifier: PA2825062118

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000383952

RCV000525069

RCV001764335

RCV002058782

RCV002429333

RCV003902426

ClinVar Variation:

365717

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Asn852Ser	CA5319449 NM_000093.5:c.2555A>G