ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299595
Gene: NBN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Pro199Arg
CA299593
NM_002485.5:c.596C>G