ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355530
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219546
ClinVar RCV Id:
RCV000204839
RCV000220088
RCV000505926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Gly680Ser
CA349023
NM_002485.5:c.2038G>A