ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825504225
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Glu512Lys
CA351641506
NM_001099952.4:c.1534G>A