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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498014.1:p.[Glu2231Arg;Asp2233del;Gln2235_Ser2237delinsThrAsn;Ile2239_Asp2248delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2250_Gln2256delinsLysThrSerSerMet;Lys2258_Arg2260del]
CA645535844
ENST00000648266.1:c.6690_6691insAG