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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308319.1:p.[Leu321_Pro323delinsAspCysLeu;Asp325_Pro326delinsGlnThr;Ala328Leu;Pro330_Thr331delinsLeuPro;Leu333_Gln343delinsPhePheIleThrAlaThrPheAlaArgSerSer;Asp345_Ser346delinsGluThr;Thr348_Cys349delinsGlnProAla]
CA764951980
NM_001321390.1:c.959_960insTG