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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001093422.2:p.[Glu2192Arg;Asp2194del;Gln2196_Ser2198delinsThrAsn;Ile2200_Asp2209delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2211_Gln2217delinsLysThrSerSerMet;Lys2219_Arg2221del]
CA645535844
NM_001099952.4:c.6573_6574insAG