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Canonical Allele Identifier: Get Identifier
Gene: BTD HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000400995.1:p.[Cys21_Lys29delinsAlaLeuCysLeuGluProGluValSer;Ala31del;Leu34_Tyr38delinsSerSerAlaAla;Val40_Ala41delinsThrTrp;Gly43_His45delinsProTrpGluPro;Thr46_Gly47insPro;Glu48_Ser50delinsArgArgAla]
CA2831039755
ENST00000437172.5:c.61del