ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825335085
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165044
RCV000476294
RCV000588529
RCV001788056
ClinVar Variation:
185597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Asn346Asp
CA192382
NM_001024688.3:c.1036A>G