ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829821799
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1729878
ClinVar RCV Id:
RCV002326177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Ala1099Thr
CA3236304
NM_015384.5:c.3295G>A