ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829695267
Gene: NUP50
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009103.2:p.Phe113Ser
CA10283240
NM_007172.4:c.338T>C