ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239388
Gene: NIPBL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056199.2:p.Arg765Lys
NM_015384.5:c.2294G>A