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Canonical Allele Identifier: Get Identifier
Gene: PHOX2B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.[Ala241_Ala260delinsGlyGlySerGlySerGlyGlySerTrpArgProGlyCys;Gly262_Ala266delinsTrp;Gly268del;Gly270_Gly276delinsTrpThrArgLeuGlySerArg;Gly278Arg;Ile280_Ser282delinsHisHisLeu]
CA645526518
NM_003924.4:c.722_756del