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Canonical Allele Identifier: Get Identifier
Gene: NBEAL1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507195.1:p.[Glu9_Leu10insThr;Trp11_Met12delinsAspAla;Tyr14_Thr16delinsLeuTyr;Lys18_Tyr22delinsGluArgSerArg;Lys24_Phe30delinsProGluAlaVal;Ser32_Gln36delinsGlyHisPheCys;Leu38_Asp39del]
CA2577217018
ENST00000681967.1:c.27dup