ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829821664
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001301016
ClinVar Variation:
1004327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Glu778Gln
CA359500658
NM_015384.5:c.2332G>C