ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829178410
Gene: ITPKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001375333.1:p.Arg173His
CA1424162
NM_001388404.1:c.518G>A