ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825335344
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461512
ClinVar RCV Id:
RCV000560363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Pro431Leu
CA371655638
NM_001024688.3:c.1292C>T