Allele Registry

Canonical Allele Identifier: PA095189

Gene: COL4A5 HGNC NCBI

ClinVar Allele:

36059

ClinVar RCV:

RCV000021597

RCV000782215

RCV002247376

ClinVar Variation:

24718

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Arg1410Cys	CA259005 NM_000495.4:c.4228C>T