ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831470
Gene: NUP107
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065134.1:p.Asp447Asn
CA385694986
NM_020401.4:c.1339G>A