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Canonical Allele Identifier: Get Identifier
Gene: BTD HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.[Trp409_Glu412delinsCysSerAsn;Tyr414del;His416_Cys418delinsSerThr;Asn420_Leu427delinsValProMetAlaSerAlaValIle;Glu429delinsPheThr;Arg430_Pro431insGly;Thr432_Ser434delinsProTyrPro;Glu436_Leu440delinsSerCysMetProTrp;Val442_Phe443delinsSerLeu]
CA278470
NM_000060.4:c.1227_1241delinsTTCCAATGGCC