Allele Registry

Canonical Allele Identifier: PA258489

Gene: COL4A5 HGNC NCBI

ClinVar RCV:

RCV001328070

ClinVar Variation:

24419

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Gly500Arg	CA258488 NM_000495.4:c.1498G>C