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Canonical Allele Identifier: Get Identifier
Gene: PHOX2B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000226382.2:p.[Pro279_Asp285delinsLeuHisProGlyPheAlaTrpGly;Gly288_Gly289delinsArgGlnArg;Pro290_Phe291insIle;Ser293_Leu298delinsProLysThr;Pro301_Ala307delinsCysGlnSerArg;Val309_Ser311delinsSerGluGlu]
CA2580070993
ENST00000226382.4:c.836_843del