ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829365328
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Arg491Trp
CA351641466
NM_002222.7:c.1471C>T