ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825335456
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530766
ClinVar RCV Id:
RCV000636781
RCV000780527
RCV001292842
RCV002404780
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Val474Met
CA4802691
NM_001024688.3:c.1420G>A