ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658832849
Gene: ITPR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Ala2102Ser
CA2232562
NM_001168272.2:c.6304G>T