Allele Registry

Canonical Allele Identifier: PA258648

Gene: COL4A5 HGNC NCBI

ClinVar RCV:

RCV000021382

RCV001067665

ClinVar Variation:

24503

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Gly763Glu	CA258647 NM_000495.4:c.2288G>A