ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057587403
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005244893
ClinVar Variation:
3772570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Lys493del
CA3054207068
NM_133433.4:c.1477_1479del