ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465697
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
396988
ClinVar RCV:
RCV000460586
RCV001021549
RCV001800688
ClinVar Variation:
411750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ile132Met
CA16612674
NM_002485.5:c.396A>G