ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826855219
Gene: IBTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161695
ClinVar RCV Id:
RCV000149231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287835.1:p.Asn1154Ile
CA174612
NM_001300906.2:c.3461A>T