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Canonical Allele Identifier: Get Identifier
Gene: COL4A6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011529154.1:p.[Thr1600del;Ala1602del;Ala1604Trp;Gly1607delinsValArgAspCysArgTrpCysArg;Gln1609_Leu1611delinsTrpArgPro;Ser1613del;Ser1616_Phe1621delinsLeuThrTrpLeuLeuPro;Ala1623_Pro1625delinsGlyLeuSerGlyHisSer;Ile1627_Cys1629delinsHisArgMet]
CA2554010107
XM_011530852.2:c.4797_4798insGCCGGGTGGGAAGGTGTCCGGG