ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272193
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159171
ClinVar RCV Id:
RCV000146665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Ala2024Glu
CA272192
NM_015384.5:c.6071C>A