ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828761679
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Thr252Ile
CA351636567
NM_001378452.1:c.755C>T