ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825335537
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411789
ClinVar RCV Id:
RCV000461649
RCV000567576
RCV000679454
RCV001358087
RCV002282161
RCV002475888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Glu503Gly
CA4802685
NM_001024688.3:c.1508A>G