ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741877789
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Tyr567Cys
CA351642390
NM_001378452.1:c.1700A>G