Allele Registry

Canonical Allele Identifier: PA1139711290

Gene: COL4A1 HGNC NCBI

ClinVar RCV:

RCV002246256

RCV003153965

ClinVar Variation:

982405

HGVS (amino-acid)	Matching Registered Transcripts
NP_001836.3:p.Glu1615Lys	CA388654322 NM_001845.6:c.4843G>A