ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829402174
Gene: UPF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002902.2:p.Arg694Trp
CA306278230
NM_002911.4:c.2080C>T