ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742004300
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2920325
ClinVar RCV Id:
RCV003604598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Leu866Pro
CA3236196
NM_133433.4:c.2597T>C