ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465696
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
233699
ClinVar RCV:
RCV000223570
RCV000636732
ClinVar Variation:
231414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ile132Val
CA4802987
NM_002485.5:c.394A>G