ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645467099
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
353390
ClinVar RCV Id:
RCV000405638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Gly2746Ser
CA10624607
NM_133433.4:c.8236G>A