ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645467016
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420740
ClinVar RCV Id:
RCV000486857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Ala2024Pro
CA16618203
NM_133433.4:c.6070G>C