Canonical Allele Identifier: PA258934
Gene: COL4A5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_203699.1:p.Gly1232Ser
NM_033380.3:c.[3689dup;3691C=;3693T>A;369...

NM_033380.3:c.[3689dup;3693T>A;3695del]

NM_033380.3:c.3694G>A