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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.[Cys19_Lys27delinsAlaLeuCysLeuGluProGluValSer;Ala29del;Leu32_Tyr36delinsSerSerAlaAla;Val38_Ala39delinsThrTrp;Gly41_His43delinsProTrpGluPro;Thr44_Gly45insPro;Glu46_Ser48delinsArgArgAla]
CA2831039755
NM_000060.4:c.55del