Allele Registry

Canonical Allele Identifier: PA2499294962

Gene: COL4A5 HGNC NCBI

ClinVar RCV:

RCV001542720

RCV002032540

ClinVar Variation:

1184578

HGVS (amino-acid)	Matching Registered Transcripts
NP_203699.1:p.Gly334Asp	CA413928933 NM_033380.3:c.1001G>A