ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825334384
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127874
ClinVar RCV Id:
RCV000115798
RCV000235189
RCV000461206
RCV000515203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Pro117Ser
CA287940
NM_001024688.3:c.349C>T