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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056495.4:p.[Pro327_Pro329delinsLeuProLeu;Thr331del;Leu333_Gln343delinsPhePheIleThrAlaThrPheAlaArgSerSer;Asp345_Ser346delinsGluThr;Thr348_His354delinsGlnProAlaMetProAlaSerThr;Asn356Thr]
CA539841530
NM_015680.6:c.980del