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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.[Phe42Ser;Ala44_Ala45delinsArgGln;Pro47Arg;Cys49Ala;Ala51_Ala58delinsArgSerAlaProProThrAlaHis;Gly60_Gln66delinsAlaProTyrAlaThrThrSer;Ala68Arg;Tyr70_Ser71delinsThrArg]
CA2614940700
ENST00000298231.5:c.125del