ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956834
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185980
ClinVar RCV Id:
RCV000165497
RCV000168457
RCV001706081
RCV002225484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Thr57Ala
CA193554
NM_001024688.3:c.169A>G