ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645465839
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421530
ClinVar RCV Id:
RCV000478839
RCV001036229
RCV002446933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Met294Thr
CA4802879
NM_002485.5:c.881T>C