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Canonical Allele Identifier: Get Identifier
Gene: COL4A6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000445236.1:p.[Thr1549del;Ala1551del;Ala1553Trp;Gly1556delinsValArgAspCysArgTrpCysArg;Gln1558_Leu1560delinsTrpArgPro;Ser1562del;Ser1565_Phe1570delinsLeuThrTrpLeuLeuPro;Ala1572_Pro1574delinsGlyLeuSerGlyHisSer;Ile1576_Cys1578delinsHisArgMet]
CA2554010107
ENST00000538570.5:c.4644_4645insGCCGGGTGGGAAGGTGTCCGGG