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Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011515859.1:p.[Asn2119_Gln2124delinsIleSerArgIleSerSerArg;Leu2126delinsSerTrp;Leu2128delinsAlaSerTrp;Gly2130Ser;Met2132_Gly2137delinsGlnAspTrpGlnGln;Ala2139_Thr2143delinsProProProGlu;Gly2145_Ala2148delinsMetArg]
CA2695203181
XM_011517557.1:c.6356del