ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374815
Gene: ITPRIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161542
ClinVar RCV Id:
RCV000149077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008949.1:p.Ala439Thr
CA174300
NM_001008949.3:c.1315G>A