ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335372
Gene: NEBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201909
ClinVar RCV Id:
RCV000183638
RCV000704803
RCV004020231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006384.1:p.Pro701Thr
CA335370
NM_006393.3:c.2101C>A