ClinGen Allele Registry
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Canonical Allele Identifier:
PA299632
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160794
RCV000205938
RCV000235191
RCV001788054
RCV003317109
ClinVar Variation:
182727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asp677Asn
CA299630
NM_002485.5:c.2029G>A