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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_024308558.1:p.[Pro334_Asp335delinsGlnThr;Pro337_Pro339delinsLeuProLeu;Thr341del;Leu343_Gln353delinsPhePheIleThrAlaThrPheAlaArgSerSer;Asp355_Ser356delinsGluThr;Thr358_Leu363delinsGlnProAlaMetProAlaSer]
CA2663204756
XM_024452790.1:c.1001del