ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580274074
Gene: ITPKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002212.3:p.Arg173His
CA1424162
NM_002221.4:c.518G>A