This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BCHE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000046.1:p.[Asp332_Leu334delinsGluTyrTyr;Glu336Asn;Gly338_Phe340delinsAspAsnLeu;Thr343_Asn350delinsProArgPheTrpTrpValLeuIle;Asp352_Glu353delinsMetLys;Thr355_Ala356delinsGlnLeu;Leu358_Ala362del]
CA2668431698
NM_000055.4:c.996del