ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825334621
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496166
ClinVar RCV Id:
RCV000589829
RCV000701071
RCV000772494
RCV001355653
RCV003492114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Ser196Ala
CA371658496
NM_001024688.3:c.586T>G