ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287903
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000222002
RCV000589729
RCV001087448
ClinVar Variation:
127857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Asn413Ser
CA287901
NM_002485.5:c.1238A>G