ClinGen Allele Registry
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Canonical Allele Identifier:
PA915956795
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219644
ClinVar RCV Id:
RCV000206877
RCV000220601
RCV000486552
RCV000764790
RCV000767209
RCV003474978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Val32Phe
CA350859
NM_001024688.3:c.94G>T