ClinGen Allele Registry
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Canonical Allele Identifier:
PA287897
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133311
ClinVar RCV:
RCV000115776
RCV000212741
RCV000589164
RCV001082179
RCV001255161
RCV001293998
RCV001355371
RCV003945047
ClinVar Variation:
127854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Val346Met
CA287895
NM_002485.5:c.1036G>A