ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580507089
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1746464
ClinVar RCV Id:
RCV002344363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Ile1756Val
CA359488057
NM_133433.4:c.5266A>G