ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829400188
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2855413
ClinVar RCV Id:
RCV003617507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ser117Thr
CA371662109
NM_002485.5:c.349T>A