ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271975
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146521
ClinVar Variation:
159036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Lys493Glu
CA271974
NM_015384.5:c.1477A>G