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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005246520.1:p.[Pro324_Asp325delinsGlnThr;Pro327_Pro329delinsLeuProLeu;Thr331del;Leu333_Gln343delinsPhePheIleThrAlaThrPheAlaArgSerSer;Asp345_Ser346delinsGluThr;Thr348_Leu353delinsGlnProAlaMetProAlaSer]
CA2663204756
XM_005246463.3:c.971del