Canonical Allele Identifier: PA258837
Gene: COL4A5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_203699.1:p.Ser1071Ter
NM_033380.3:c.3212C>A

NM_033380.3:c.3212C>G