Allele Registry

Canonical Allele Identifier: PA343272

Gene: COL4A1 HGNC NCBI

ClinVar RCV:

RCV002247408

ClinVar Variation:

38962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001836.3:p.Gly590Glu	CA343271 NM_001845.6:c.1769G>A