ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250341
Gene: NEBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1512921
ClinVar RCV Id:
RCV002018277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006384.1:p.Asp51Asn
CA376098516
NM_006393.3:c.151G>A