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Canonical Allele Identifier: Get Identifier
Gene: PHOX2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000298231.5:p.[Ala45del;Pro47_Cys49delinsGlnGlyArg;Leu52_Gly53delinsProArg;Ser55_Cys57delinsAlaProProThr;Leu59_Gly60delinsHisLeu;Leu62_Gln66delinsProTyrAlaThrThrSer;Ala68Arg;Tyr70_Val73delinsThrArgGlnCys]
CA2574913680
ENST00000298231.5:c.132_133dup