ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744714
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345716
ClinVar RCV Id:
RCV000377614
RCV000677361
RCV001598658
RCV002523265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Ala911Val
CA2231486
NM_001378452.1:c.2732C>T