Canonical Allele Identifier: PA261058
Gene: COL4A5 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Gly530Asp
CA261057
NM_000495.4:c.1589G>A