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Canonical Allele Identifier: Get Identifier
Gene: NAGS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000465408.1:p.[Met302_Ser310delinsSerSerAlaAlaCysProThrThrPro;Leu312del;His314_His315del;Ala318_Ala323delinsProProLeuAlaArgCys;Thr325del;Leu327_Glu329delinsSerSer;Phe331_Lys334delinsAlaThrArg;Ser336Pro]
CA2739267562
ENST00000589767.1:c.905_923del