ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825335663
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486410
RCV001013475
RCV001309682
ClinVar Variation:
418857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Leu549Val
CA16618699
NM_001024688.3:c.1645C>G