ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658832850
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Leu2436Pro
CA351647630
NM_001168272.2:c.7307T>C