ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139707372
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
942956
ClinVar RCV Id:
RCV001213047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Leu563Ser
CA181257800
NM_002485.5:c.1688T>C