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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365381.1:p.[Glu2240Arg;Asp2242del;Gln2244_Ser2246delinsThrAsn;Ile2248_Asp2257delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2259_Gln2265delinsLysThrSerSerMet;Lys2267_Arg2269del]
CA645535844
NM_001378452.1:c.6717_6718insAG