ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741897782
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2820864
ClinVar RCV Id:
RCV003618533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Leu739del
CA2739268856
NM_002485.5:c.2215_2217del