Canonical Allele Identifier: PA258631
Gene: COL4A5 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_203699.1:p.Gly722Glu
CA258630
NM_033380.3:c.2165G>A