ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828713034
Gene: NEBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000656147
ClinVar Variation:
487585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364257.1:p.His126Tyr
CA376093268
NM_001377328.1:c.376C>T