ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830332150
Gene: NUP50
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705931.1:p.Lys230Glu
CA10283351
NM_153645.2:c.688A>G