ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825335684
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141273
ClinVar RCV Id:
RCV000129714
RCV000214531
RCV000229344
RCV001193652
RCV001354210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Ser556Pro
CA164965
NM_001024688.3:c.1666T>C