ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829365331
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Glu497Lys
CA351641506
NM_002222.7:c.1489G>A