ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580506998
Gene: NIPBL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Thr450Ile
CA3236016
NM_133433.4:c.1349C>T