Allele Registry

Canonical Allele Identifier: PA096423

Gene: COL4A5 HGNC NCBI

ClinVar RCV:

RCV001241307

RCV001384771

ClinVar Variation:

24513

966589

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Gly796Arg	CA258672 NM_000495.4:c.2386G>A CA413849219 NM_000495.4:c.2386G>C