ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830006218
Gene: UPF3B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075386.1:p.Val118Ile
CA10503339
NM_023010.3:c.352G>A