ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825335755
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127863
ClinVar RCV Id:
RCV000115786
RCV000230585
RCV000212753
RCV000515337
RCV001778709
RCV001328956
RCV003915124
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Ser585Pro
CA287913
NM_001024688.3:c.1753T>C