ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825334605
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530764
ClinVar RCV Id:
RCV000636779
RCV001525443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Thr191Ile
CA371658541
NM_001024688.3:c.572C>T