ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499260657
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Arg241Lys
CA351636391
NM_002222.7:c.722G>A