ClinGen Allele Registry
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Canonical Allele Identifier:
PA3075608533
Gene: NUP214
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005076.3:p.Pro574Thr
CA375274360
NM_005085.4:c.1720C>A