ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271997
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146534
ClinVar Variation:
159045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Leu69Pro
CA271995
NM_133433.4:c.206T>C