ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645466137
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411748
ClinVar RCV Id:
RCV000464532
RCV000562388
RCV001821291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Pro700Thr
CA16612356
NM_002485.5:c.2098C>A