ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199214
Gene: ITPR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002214.2:p.Gly2498Ser
CA199213
NM_002223.4:c.7492G>A