ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741853521
Gene: UPF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284478.1:p.Cys626Tyr
CA404884895
NM_001297549.2:c.1877G>A