ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825335120
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115781
RCV000173760
RCV001082062
RCV001292773
RCV001355697
RCV001719859
RCV003935104
ClinVar Variation:
127858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Ile357Met
CA200704
NM_001024688.3:c.1071A>G