ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573295588
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002026193
ClinVar Variation:
1513479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Arg894His
CA3236211
NM_133433.4:c.2681G>A