ClinGen Allele Registry
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Canonical Allele Identifier:
PA658816399
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530760
ClinVar RCV Id:
RCV000636775
RCV001010019
RCV003465396
RCV003483697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Gln39Lys
CA181281098
NM_002485.5:c.115C>A