ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746468
Gene: NIPBL
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_597677.2:p.Leu429Val
NM_133433.4:c.1285C>G