Allele Registry

Canonical Allele Identifier: PA891847810

Gene: COL5A2 HGNC NCBI

ClinVar Variation Id: 576774

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Ala1013Val	CA2022136 NM_000393.5:c.3038C>T