ClinGen Allele Registry
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Canonical Allele Identifier:
PA913192732
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
627828
ClinVar RCV Id:
RCV000771688
RCV001059710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.His733Asp
CA371674815
NM_002485.5:c.2197C>G