ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829732017
Gene: NUP62
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036478.2:p.Thr165Met
CA9589130
NM_012346.5:c.494C>T