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Canonical Allele Identifier: Get Identifier
Gene: COL4A6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274688.1:p.[Thr1582del;Ala1584del;Ala1586Trp;Gly1589delinsValArgAspCysArgTrpCysArg;Gln1591_Leu1593delinsTrpArgPro;Ser1595del;Ser1598_Phe1603delinsLeuThrTrpLeuLeuPro;Ala1605_Pro1607delinsGlyLeuSerGlyHisSer;Ile1609_Cys1611delinsHisArgMet]
CA2554010107
NM_001287759.2:c.4743_4744insGCCGGGTGGGAAGGTGTCCGGG