Allele Registry

Canonical Allele Identifier: PA645498149

Gene: COL4A1 HGNC NCBI

ClinVar RCV:

RCV000414476

ClinVar Variation:

372328

HGVS (amino-acid)	Matching Registered Transcripts
NP_001836.3:p.Arg315Cys	CA16042820 NM_001845.6:c.943C>T