ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825504217
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Arg506Trp
CA351641466
NM_001099952.4:c.1516C>T