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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.[Phe8_Glu9del;Trp11_Tyr14delinsAsnPheGly;Thr16_Leu23delinsPheIleValGlnArg;Leu25_Asp28delinsIleGlnIle;Phe30_Leu38del]
CA2662732070
ENST00000681967.1:c.24del