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Canonical Allele Identifier: Get Identifier
Gene: COL4A6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_378667.1:p.[Thr1606del;Ala1608del;Ala1610Trp;Gly1613delinsValArgAspCysArgTrpCysArg;Gln1615_Leu1617delinsTrpArgPro;Ser1619del;Ser1622_Phe1627delinsLeuThrTrpLeuLeuPro;Ala1629_Pro1631delinsGlyLeuSerGlyHisSer;Ile1633_Cys1635delinsHisArgMet]
CA2554010107
NM_033641.4:c.4815_4816insGCCGGGTGGGAAGGTGTCCGGG