Canonical Allele Identifier: PA258772
Gene: COL4A5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000486.1:p.Ser942del
NM_000495.4:c.2825_2827del

NM_000495.4:c.[2825_2827del;2829A>G]

NM_000495.4:c.[2825_2827del;2829_2830deli...