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Canonical Allele Identifier: Get Identifier
Gene: COL4A6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274687.1:p.[Thr1623del;Ala1625del;Ala1627Trp;Gly1630delinsValArgAspCysArgTrpCysArg;Gln1632_Leu1634delinsTrpArgPro;Ser1636del;Ser1639_Phe1644delinsLeuThrTrpLeuLeuPro;Ala1646_Pro1648delinsGlyLeuSerGlyHisSer;Ile1650_Cys1652delinsHisArgMet]
CA2554010107
NM_001287758.2:c.4866_4867insGCCGGGTGGGAAGGTGTCCGGG