ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671764
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000574288
RCV000694630
RCV000833202
ClinVar Variation:
480019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ser411Cys
CA4802777
NM_002485.5:c.1232C>G