ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825335523
Gene: NBN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Val498Ile
CA10582596
NM_001024688.3:c.1492G>A