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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497026.1:p.[Glu2216Arg;Asp2218del;Gln2220_Ser2222delinsThrAsn;Ile2224_Asp2233delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2235_Gln2241delinsLysThrSerSerMet;Lys2243_Arg2245del]
CA645535844
ENST00000648309.1:c.6645_6646insAG